Variant report

Variant	rs34606713
Chromosome Location	chr7:150757236-150757237
allele	C/T
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	POLR2A	chr7:150754493-150760694	K562	blood:	n/a	n/a
2	CEBPD	chr7:150756362-150757395	HepG2	liver:	n/a	n/a
3	MXI1	chr7:150756208-150758040	HepG2	liver:	n/a	n/a
4	HDAC2	chr7:150756633-150757246	HepG2	liver:	n/a	n/a
5	TAF1	chr7:150756420-150757328	K562	blood:	n/a	n/a
6	CTCF	chr7:150756760-150757360	GM12878	blood:	n/a	chr7:150757093-150757106 chr7:150757098-150757119 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150757096-150757114 chr7:150757093-150757111 chr7:150757096-150757109
7	ZNF143	chr7:150756486-150757264	GM12878	blood:	n/a	chr7:150757159-150757177
8	POLR2A	chr7:150757190-150757353	K562	blood:	n/a	n/a
9	CTCF	chr7:150757220-150757370	HCM	heart:	n/a	n/a
10	POLR2A	chr7:150754758-150760600	K562	blood:	n/a	n/a
11	YY1	chr7:150756847-150757238	GM12878	blood:	n/a	chr7:150757116-150757130
12	MYC	chr7:150754647-150758067	K562	blood:	n/a	chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150757089-150757099 chr7:150755996-150756015 chr7:150756003-150756010
13	HDAC2	chr7:150756916-150757400	K562	blood:	n/a	n/a
14	SMARCB1	chr7:150756206-150758039	Hela-S3	cervix:	n/a	n/a
15	SIN3AK20	chr7:150756966-150757246	HepG2	liver:	n/a	n/a
16	CTCF	chr7:150756957-150757262	K562	blood:	n/a	chr7:150757093-150757106 chr7:150757098-150757119 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150757096-150757114 chr7:150757093-150757111 chr7:150757096-150757109
17	ZBTB7A	chr7:150756227-150760413	K562	blood:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
18	POLR2A	chr7:150754631-150757369	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr7:150755980-150758061	K562	blood:	n/a	n/a
20	SREBP1	chr7:150754410-150757606	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:150756385-150757272	Gliobla	brain:	n/a	n/a
22	NR2F2	chr7:150753155-150758025	K562	blood:	n/a	n/a
23	POLR2A	chr7:150756276-150757305	Hela-S3	cervix:	n/a	n/a
24	ZBTB7A	chr7:150756451-150758625	ECC-1	luminal epithelium:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
25	POLR2A	chr7:150754724-150758316	U87	brain:	n/a	n/a
26	MXI1	chr7:150754410-150760844	IMR90	lung:	n/a	chr7:150759550-150759559 chr7:150759552-150759561 chr7:150760584-150760593 chr7:150759552-150759561
27	POLR2A	chr7:150754701-150757473	HUVEC	blood vessel:	n/a	n/a
28	CBX3	chr7:150756682-150757305	K562	blood:	n/a	n/a
29	MAX	chr7:150756528-150757362	A549	lung:	n/a	chr7:150757089-150757099
30	ELF1	chr7:150756379-150757344	K562	blood:	n/a	chr7:150757124-150757133
31	MAZ	chr7:150756061-150758319	HepG2	liver:	n/a	chr7:150757089-150757099
32	CCNT2	chr7:150756417-150757260	K562	blood:	n/a	chr7:150757163-150757172
33	YY1	chr7:150756848-150757242	GM12892	blood:	n/a	chr7:150757116-150757130
34	POLR2A	chr7:150754086-150757415	HepG2	liver:	n/a	n/a
35	SIN3A	chr7:150756681-150758148	H1-hESC	embryonic stem cell:	n/a	chr7:150758044-150758058 chr7:150757832-150757843 chr7:150757465-150757478 chr7:150757538-150757552
36	POLR2A	chr7:150754772-150758468	U87	brain:	n/a	n/a
37	CTCF	chr7:150757025-150757238	LNCaP	prostate:	n/a	chr7:150757093-150757106 chr7:150757098-150757119 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150757096-150757114 chr7:150757093-150757111 chr7:150757096-150757109
38	PML	chr7:150756193-150757289	GM12878	blood:	n/a	n/a
39	SP4	chr7:150756690-150757261	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:150754766-150758468	U87	brain:	n/a	n/a
41	POLR2A	chr7:150754806-150760313	K562	blood:	n/a	n/a
42	ELF1	chr7:150756432-150757273	GM12878	blood:	n/a	chr7:150757124-150757133
43	POLR2A	chr7:150754523-150760219	SK-N-MC	brain:	n/a	n/a
44	TBP	chr7:150756160-150757429	K562	blood:	n/a	n/a
45	BHLHE40	chr7:150757100-150757267	K562	blood:	n/a	n/a
46	CREB1	chr7:150754600-150758238	HepG2	liver:	n/a	n/a
47	SPI1	chr7:150756655-150757300	HL-60	blood:	n/a	n/a
48	ZBTB7A	chr7:150757041-150757267	HepG2	liver:	n/a	chr7:150757231-150757239 chr7:150757085-150757094
49	MAX	chr7:150754965-150757371	K562	blood:	n/a	chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150757089-150757099 chr7:150755996-150756015 chr7:150756003-150756010
50	CREB1	chr7:150756404-150757297	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150757210-150757260	IMR90	lung:	fetal
2	chr7:150757210-150757260	GM06990	blood:	n/a
3	chr7:150757210-150757260	Hela-S3	cervix:	n/a
4	chr7:150757210-150757260	HRE	kidney:	n/a
5	chr7:150757210-150757260	HEEpiC	esophagus:	n/a
6	chr7:150757210-150757260	GM12892	blood:	n/a
7	chr7:150757210-150757260	SAEC	small airway:	n/a
8	chr7:150757210-150757260	HCF	heart:	n/a
9	chr7:150757210-150757260	HIPEpiC	eye:	n/a
10	chr7:150757210-150757260	RPTEC	kidney:	n/a
11	chr7:150757210-150757260	CMK	blood:	n/a
12	chr7:150757210-150757260	HCM	heart:	n/a
13	chr7:150757210-150757260	SKMC	muscle:	n/a
14	chr7:150757210-150757260	SK-N-SH	brain:	n/a
15	chr7:150757210-150757260	HL-60	blood:	n/a
16	chr7:150757210-150757260	AG04450	lung:	fetal
17	chr7:150757210-150757260	MCF10A-Er-Src	breast:	n/a
18	chr7:150757210-150757260	AG10803	skin:	n/a
19	chr7:150757210-150757260	HRCEpiC	kidney:	n/a
20	chr7:150757210-150757260	AG09319	gingival:	n/a
21	chr7:150757210-150757260	HCPEpiC	choroid plexus:	n/a
22	chr7:150757210-150757260	U87	brain:	n/a
23	chr7:150757210-150757260	ECC-1	luminal epithelium:	n/a
24	chr7:150757210-150757260	PANC-1	pancreas:	n/a
25	chr7:150757210-150757260	BJ	skin:	n/a
26	chr7:150757210-150757260	H1-hESC	embryonic stem cell:	embryo
27	chr7:150757210-150757260	T-47D	breast:	n/a
28	chr7:150757210-150757260	HNPCEpiC	eye:	n/a
29	chr7:150757210-150757260	SK-N-SH_RA	brain:	n/a
30	chr7:150757210-150757260	NHBE	bronchial:	n/a
31	chr7:150757210-150757260	BE2_C	brain:	n/a
32	chr7:150757210-150757260	AG09309	skin:	n/a
33	chr7:150757210-150757260	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:150757210-150757260	HRPEpiC	eye:	n/a
35	chr7:150757210-150757260	NHDF-neo	bronchial:	n/a
36	chr7:150757210-150757260	Jurkat	blood:	n/a
37	chr7:150757210-150757260	PrEC	prostate:	n/a
38	chr7:150757210-150757260	NB4	blood:	n/a
39	chr7:150757210-150757260	HepG2	liver:	n/a
40	chr7:150757210-150757260	HMEC	breast:	n/a
41	chr7:150757210-150757260	HAEpiC	amniotic membrane:	n/a
42	chr7:150757210-150757260	Hepatocyte	liver:	n/a
43	chr7:150757210-150757260	ProgFib	skin:	n/a
44	chr7:150757210-150757260	Caco-2	colon:	n/a
45	chr7:150757210-150757260	HEK293	kidney:	embryo
46	chr7:150757210-150757260	K562	blood:	n/a
47	chr7:150757210-150757260	MCF-7	breast:	n/a
48	chr7:150757210-150757260	NT2-D1	testis:	n/a
49	chr7:150757210-150757260	GM12891	blood:	n/a
50	chr7:150757210-150757260	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150756739..150757952-chr7:150807848..150809287,3	MCF-7	breast:
2	chr7:150756584..150759484-chr7:151213825..151215971,2	MCF-7	breast:
3	chr7:150725331..150726357-chr7:150756071..150757624,5	K562	blood:
4	chr14:20809894..20812869-chr7:150755610..150758204,2	MCF-7	breast:
5	chr7:150689613..150692426-chr7:150754513..150757333,2	MCF-7	breast:
6	chr7:150688771..150691560-chr7:150756219..150758072,2	MCF-7	breast:
7	chr7:150755192..150758087-chr7:150922401..150925767,3	K562	blood:
8	chr7:150725480..150725995-chr7:150756426..150757309,2	MCF-7	breast:

Variant related genes	Relation type
SLC4A2	TF binding region
CDK5	TF binding region
CDK5	CpG island
SLC4A2	CpG island
ENSG00000164867	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000033050	Chromatin interaction
ENSG00000106615	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000197150	Chromatin interaction
ENSG00000259001	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35401760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35656013	1.00[AMR][1000 genomes]
rs35856626	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36017510	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking 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	28 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150754200-150757600	Bivalent/Poised TSS	HepG2	liver
2	chr7:150754400-150757400	Active TSS	Psoas Muscle	Psoas
3	chr7:150754400-150757800	Active TSS	Aorta	Aorta
4	chr7:150754600-150757400	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr7:150754600-150757600	Active TSS	Gastric	stomach
6	chr7:150754600-150757600	Active TSS	Left Ventricle	heart
7	chr7:150754600-150757600	Active TSS	Ovary	ovary
8	chr7:150754600-150758000	Active TSS	Small Intestine	intestine
9	chr7:150754800-150757400	Active TSS	Lung	lung
10	chr7:150756000-150757400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:150756000-150757400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:150756000-150757400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:150756000-150757400	Active TSS	Right Atrium	heart
14	chr7:150756000-150757400	Active TSS	Right Ventricle	heart
15	chr7:150756200-150757400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:150756200-150757400	Active TSS	Brain Cingulate Gyrus	brain
17	chr7:150756200-150757400	Active TSS	Placenta Amnion	Placenta Amnion
18	chr7:150756200-150757600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:150756200-150757600	Active TSS	Brain Hippocampus Middle	brain
20	chr7:150756200-150757800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:150756200-150758000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:150756200-150758000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:150756400-150757400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:150756400-150757400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:150756400-150757400	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:150756400-150757400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:150756400-150757400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:150756400-150757400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr7:150756400-150757400	Active TSS	Brain Anterior Caudate	brain
30	chr7:150756400-150757400	Active TSS	Duodenum Mucosa	Duodenum
31	chr7:150756400-150757400	Active TSS	Esophagus	oesophagus
32	chr7:150756400-150757400	Active TSS	Pancreas	Pancrea
33	chr7:150756400-150757400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr7:150756400-150757400	Active TSS	Rectal Smooth Muscle	rectum
35	chr7:150756400-150757400	Active TSS	K562	blood
36	chr7:150756400-150757600	Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:150756400-150757600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:150756400-150757600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:150756400-150757600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:150756400-150757600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:150756400-150757600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:150756400-150757600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr7:150756400-150757600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:150756400-150757600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:150756400-150757600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:150756400-150757600	Active TSS	Brain Substantia Nigra	brain
47	chr7:150756400-150757600	Active TSS	Fetal Intestine Small	intestine
48	chr7:150756400-150757600	Active TSS	Fetal Lung	lung
49	chr7:150756400-150757600	Active TSS	NHEK	skin
50	chr7:150756400-150757600	Active TSS	NHLF	lung

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