Variant report

Variant	rs34104727
Chromosome Location	chr7:150777454-150777455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:150777156-150778283	K562	blood:	n/a	chr7:150778131-150778140
2	TAF1	chr7:150777165-150779381	K562	blood:	n/a	n/a
3	POLR2A	chr7:150777141-150778793	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr7:150777407-150778348	SK-N-SH	brain:	n/a	chr7:150778004-150778020
5	POLR2A	chr7:150777077-150778306	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:150770896-150778995	PANC-1	pancreas:	n/a	n/a
7	TCF12	chr7:150777330-150778328	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr7:150777421-150778279	GM19099	blood:	n/a	n/a
9	ZC3H11A	chr7:150777282-150778267	K562	blood:	n/a	n/a
10	POLR2A	chr7:150771355-150780971	HepG2	liver:	n/a	n/a
11	MAX	chr7:150777171-150778306	SK-N-SH	brain:	n/a	chr7:150778013-150778023
12	YY1	chr7:150777135-150778189	SK-N-SH	brain:	n/a	chr7:150778010-150778024 chr7:150777974-150777988 chr7:150777866-150777886 chr7:150777868-150777880
13	UBTF	chr7:150777304-150779748	K562	blood:	n/a	n/a
14	SIN3A	chr7:150777118-150778643	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr7:150777236-150780026	K562	blood:	n/a	chr7:150777982-150777991 chr7:150778035-150778042 chr7:150778130-150778139
16	POLR2A	chr7:150777342-150777547	A549	lung:	n/a	n/a
17	POLR2A	chr7:150777181-150777537	H1-hESC	embryonic stem cell:	n/a	n/a
18	PML	chr7:150776986-150778733	K562	blood:	n/a	n/a
19	MAX	chr7:150777349-150778388	A549	lung:	n/a	chr7:150778013-150778023
20	REST	chr7:150777406-150777975	ECC-1	luminal epithelium:	n/a	n/a
21	TAF1	chr7:150777321-150778170	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F4	chr7:150777288-150778610	K562	blood:	n/a	chr7:150777987-150777998 chr7:150777982-150777991 chr7:150778035-150778042 chr7:150778130-150778139
23	YY1	chr7:150777056-150778802	K562	blood:	n/a	chr7:150778010-150778024 chr7:150777974-150777988 chr7:150777866-150777886 chr7:150777868-150777880
24	POLR2A	chr7:150770802-150778585	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr7:150777066-150779047	ECC-1	luminal epithelium:	n/a	n/a
26	YY1	chr7:150777114-150778456	SK-N-SH	brain:	n/a	chr7:150778010-150778024 chr7:150777974-150777988 chr7:150777866-150777886 chr7:150777868-150777880
27	MYC	chr7:150777400-150777565	MCF-7	breast:	n/a	n/a
28	MAX	chr7:150777131-150778415	ECC-1	luminal epithelium:	n/a	chr7:150778013-150778023
29	CHD2	chr7:150777085-150778346	K562	blood:	n/a	chr7:150778118-150778128 chr7:150778128-150778138
30	RCOR1	chr7:150777122-150778290	K562	blood:	n/a	n/a
31	POLR2A	chr7:150777099-150780798	K562	blood:	n/a	n/a
32	TAF1	chr7:150777044-150778279	SK-N-SH	brain:	n/a	n/a
33	MAX	chr7:150777033-150778268	SK-N-SH	brain:	n/a	chr7:150778013-150778023
34	CREB1	chr7:150777363-150778232	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:150776943-150778319	HL-60	blood:	n/a	n/a
36	CTCF	chr7:150777400-150777550	SAEC	small airway:	n/a	n/a
37	HDAC2	chr7:150777178-150777533	K562	blood:	n/a	n/a
38	YY1	chr7:150777219-150778177	GM12892	blood:	n/a	chr7:150778010-150778024 chr7:150777974-150777988 chr7:150777866-150777886 chr7:150777868-150777880
39	CHD2	chr7:150777162-150778154	GM12878	blood:	n/a	chr7:150778118-150778128 chr7:150778128-150778138
40	MXI1	chr7:150777058-150778928	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:150777186-150778279	GM12878	blood:	n/a	n/a
42	ETS1	chr7:150776923-150778654	K562	blood:	n/a	chr7:150777982-150777993 chr7:150777990-150778001
43	REST	chr7:150777334-150778146	H1-neurons	neurons:	n/a	chr7:150778091-150778104
44	POLR2A	chr7:150777258-150778827	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:150777092-150778249	GM12878	blood:	n/a	n/a
46	PAX5	chr7:150777413-150778144	GM12892	blood:	n/a	n/a
47	CHD2	chr7:150777273-150778592	Hela-S3	cervix:	n/a	chr7:150778118-150778128 chr7:150778128-150778138
48	RCOR1	chr7:150777230-150778267	Hela-S3	cervix:	n/a	n/a
49	YY1	chr7:150777231-150778770	HepG2	liver:	n/a	chr7:150778010-150778024 chr7:150777974-150777988 chr7:150777866-150777886 chr7:150777868-150777880
50	MXI1	chr7:150777065-150778195	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:56708915..56709636-chr7:150777408..150778108,2	HCT-116	colon:
2	chr7:5568664..5571530-chr7:150777332..150779644,2	MCF-7	breast:
3	chr7:43768887..43769407-chr7:150777400..150778061,2	HCT-116	colon:
4	chr7:150776319..150779502-chr7:150929825..150933736,3	K562	blood:
5	chr7:149468652..149471157-chr7:150776207..150778297,2	MCF-7	breast:
6	chr19:39340477..39342745-chr7:150775717..150778073,2	MCF-7	breast:
7	chr20:52210317..52210956-chr7:150777416..150778007,2	MCF-7	breast:
8	chr7:150775206..150778180-chr7:150932374..150934759,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244151	TF binding region
FASTK	TF binding region
ENSG00000181444	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000033100	Chromatin interaction
ENSG00000106603	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10244332	0.89[ASN][1000 genomes]
rs10273337	0.89[ASN][1000 genomes]
rs1036061	0.89[ASN][1000 genomes]
rs1036062	0.89[ASN][1000 genomes]
rs10952301	0.89[ASN][1000 genomes]
rs11766855	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769150	0.83[EUR][1000 genomes]
rs13240966	0.87[ASN][1000 genomes]
rs13246833	0.87[ASN][1000 genomes]
rs34308016	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236428	1.00[ASN][1000 genomes]
rs4725389	0.89[ASN][1000 genomes]
rs4725988	1.00[ASN][1000 genomes]
rs4725989	0.89[ASN][1000 genomes]
rs4725992	1.00[ASN][1000 genomes]
rs4725993	1.00[ASN][1000 genomes]
rs6464129	0.89[ASN][1000 genomes]
rs6957724	1.00[ASN][1000 genomes]
rs6970547	1.00[ASN][1000 genomes]
rs6970773	1.00[ASN][1000 genomes]
rs749320	0.89[ASN][1000 genomes]
rs891510	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
9	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
10	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
12	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
15	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
17	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
18	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
20	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
21	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
22	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
23	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
24	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
25	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
26	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34104727	FASTK	cis	Heart Left Ventricle	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150776200-150777600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150776200-150779400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr7:150776400-150778600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:150776400-150780000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr7:150776600-150777600	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr7:150776600-150777600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:150776600-150778400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr7:150776600-150778800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:150776800-150777600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:150776800-150777600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr7:150776800-150777600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr7:150776800-150777600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:150776800-150777600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr7:150776800-150777600	Flanking Active TSS	Liver	Liver
15	chr7:150776800-150777600	Flanking Active TSS	Right Ventricle	heart
16	chr7:150776800-150781000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:150776800-150781200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:150777000-150777600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr7:150777000-150777600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr7:150777000-150777600	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr7:150777000-150777600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr7:150777000-150777600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:150777000-150777600	Flanking Active TSS	Fetal Brain Male	brain
24	chr7:150777000-150777800	Active TSS	NHDF-Ad	bronchial
25	chr7:150777000-150778200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:150777000-150778200	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr7:150777000-150778200	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr7:150777000-150778400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:150777000-150778400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:150777000-150778400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:150777000-150778400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:150777000-150778400	Active TSS	Fetal Kidney	kidney
33	chr7:150777000-150778600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:150777000-150778600	Active TSS	Ovary	ovary
35	chr7:150777000-150778600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr7:150777000-150778600	Active TSS	A549	lung
37	chr7:150777000-150778800	Active TSS	Right Atrium	heart
38	chr7:150777000-150781000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:150777200-150777600	Active TSS	Fetal Heart	heart
40	chr7:150777200-150777600	Flanking Active TSS	Placenta	Placenta
41	chr7:150777200-150777800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:150777200-150778000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:150777200-150778000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:150777200-150778000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:150777200-150778000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:150777200-150778000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:150777200-150778000	Active TSS	Brain Angular Gyrus	brain
48	chr7:150777200-150778000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr7:150777200-150778000	Active TSS	Lung	lung
50	chr7:150777200-150778000	Active TSS	HMEC	breast

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