Variant report

Variant	rs35401760
Chromosome Location	chr7:150756990-150756991
allele	A/C
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	POLR2A	chr7:150756491-150757022	HL-60	blood:	n/a	n/a
4	MXI1	chr7:150756208-150758040	HepG2	liver:	n/a	n/a
5	CTCF	chr7:150756980-150757130	GM12872	blood:	n/a	chr7:150757093-150757106 chr7:150757098-150757119 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150757096-150757114 chr7:150757093-150757111 chr7:150757096-150757109
6	HDAC2	chr7:150756633-150757246	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:150756300-150757126	GM12892	blood:	n/a	n/a
8	TAF1	chr7:150756420-150757328	K562	blood:	n/a	n/a
9	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
10	SMC3	chr7:150756929-150757172	K562	blood:	n/a	chr7:150757098-150757106 chr7:150757086-150757096 chr7:150757095-150757102 chr7:150757099-150757109
11	ZNF143	chr7:150756486-150757264	GM12878	blood:	n/a	chr7:150757159-150757177
12	CTCF	chr7:150756978-150757179	Spleen_OC	spleen:	n/a	chr7:150757093-150757106 chr7:150757098-150757119 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150757096-150757114 chr7:150757093-150757111 chr7:150757096-150757109
13	EGR1	chr7:150756425-150757175	H1-hESC	embryonic stem cell:	n/a	chr7:150756560-150756573 chr7:150756556-150756578 chr7:150756563-150756572 chr7:150756560-150756573 chr7:150757133-150757146 chr7:150756563-150756573 chr7:150756560-150756573
14	POLR2A	chr7:150754758-150760600	K562	blood:	n/a	n/a
15	CTCF	chr7:150756947-150757208	GM12892	blood:	n/a	chr7:150757093-150757106 chr7:150757098-150757119 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150757096-150757114 chr7:150757093-150757111 chr7:150757096-150757109
16	POLR2A	chr7:150756191-150757126	GM12878	blood:	n/a	n/a
17	CTCF	chr7:150756960-150757110	HRE	kidney:	n/a	chr7:150757093-150757106 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150757096-150757109
18	POLR2A	chr7:150756331-150757146	ECC-1	luminal epithelium:	n/a	n/a
19	YY1	chr7:150756847-150757238	GM12878	blood:	n/a	chr7:150757116-150757130
20	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
21	HDAC2	chr7:150756916-150757400	K562	blood:	n/a	n/a
22	SMARCB1	chr7:150756206-150758039	Hela-S3	cervix:	n/a	n/a
23	SIN3AK20	chr7:150756966-150757246	HepG2	liver:	n/a	n/a
24	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
25	ZBTB7A	chr7:150756227-150760413	K562	blood:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
26	CTCF	chr7:150756960-150757110	HPF	lung:	n/a	chr7:150757093-150757106 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150757096-150757109
27	IRF1	chr7:150754763-150757149	K562	blood:	n/a	chr7:150755018-150755032
28	POLR2A	chr7:150754631-150757369	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr7:150755980-150758061	K562	blood:	n/a	n/a
30	SREBP1	chr7:150754410-150757606	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:150756385-150757272	Gliobla	brain:	n/a	n/a
32	NR2F2	chr7:150753155-150758025	K562	blood:	n/a	n/a
33	POLR2A	chr7:150756276-150757305	Hela-S3	cervix:	n/a	n/a
34	YY1	chr7:150756823-150757141	H1-hESC	embryonic stem cell:	n/a	chr7:150757116-150757130
35	MAX	chr7:150756411-150757215	K562	blood:	n/a	chr7:150757089-150757099
36	ZBTB7A	chr7:150756451-150758625	ECC-1	luminal epithelium:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
37	BACH1	chr7:150756378-150757098	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr7:150756980-150757130	GM12875	blood:	n/a	chr7:150757093-150757106 chr7:150757098-150757119 chr7:150757096-150757105 chr7:150757096-150757109 chr7:150757096-150757114 chr7:150757093-150757111 chr7:150757096-150757109
39	POLR2A	chr7:150754724-150758316	U87	brain:	n/a	n/a
40	MXI1	chr7:150754410-150760844	IMR90	lung:	n/a	chr7:150759550-150759559 chr7:150759552-150759561 chr7:150760584-150760593 chr7:150759552-150759561
41	POLR2A	chr7:150754701-150757473	HUVEC	blood vessel:	n/a	n/a
42	HEY1	chr7:150756250-150757185	HepG2	liver:	n/a	n/a
43	CBX3	chr7:150756682-150757305	K562	blood:	n/a	n/a
44	E2F6	chr7:150756428-150757229	K562	blood:	n/a	chr7:150756563-150756573 chr7:150757084-150757093
45	MAX	chr7:150756528-150757362	A549	lung:	n/a	chr7:150757089-150757099
46	FOSL2	chr7:150756919-150757184	A549	lung:	n/a	chr7:150757173-150757182
47	MYC	chr7:150756694-150757116	MCF10A-Er-Src	breast:	n/a	chr7:150757089-150757099
48	ELF1	chr7:150756379-150757344	K562	blood:	n/a	chr7:150757124-150757133
49	BCLAF1	chr7:150756294-150757198	GM12878	blood:	n/a	chr7:150757084-150757097
50	MAZ	chr7:150756061-150758319	HepG2	liver:	n/a	chr7:150757089-150757099

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	chr19:46010576..46011164-chr7:150756478..150757183,2	HCT-116	colon:
4	chr7:150725482..150726344-chr7:150756570..150757185,2	MCF-7	breast:
5	chr7:150725331..150726357-chr7:150756071..150757624,5	K562	blood:
6	chr14:20809894..20812869-chr7:150755610..150758204,2	MCF-7	breast:
7	chr7:150689613..150692426-chr7:150754513..150757333,2	MCF-7	breast:
8	chr7:150688771..150691560-chr7:150756219..150758072,2	MCF-7	breast:
9	chr7:150755192..150758087-chr7:150922401..150925767,3	K562	blood:
10	chr7:150725480..150725995-chr7:150756426..150757309,2	MCF-7	breast:

Variant related genes	Relation type
CDK5	TF binding region
SLC4A2	TF binding region
ENSG00000033050	Chromatin interaction
ENSG00000106615	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000197150	Chromatin interaction
ENSG00000125753	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000259001	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2303940	0.91[YRI][hapmap]
rs34058458	0.87[MKK][hapmap]
rs34606713	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	chr7:150755400-150757000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:150756000-150757400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:150756000-150757400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:150756000-150757400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr7:150756000-150757400	Active TSS	Right Atrium	heart
15	chr7:150756000-150757400	Active TSS	Right Ventricle	heart
16	chr7:150756200-150757400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:150756200-150757400	Active TSS	Brain Cingulate Gyrus	brain
18	chr7:150756200-150757400	Active TSS	Placenta Amnion	Placenta Amnion
19	chr7:150756200-150757600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:150756200-150757600	Active TSS	Brain Hippocampus Middle	brain
21	chr7:150756200-150757800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:150756200-150758000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:150756200-150758000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:150756400-150757000	Active TSS	Fetal Brain Female	brain
25	chr7:150756400-150757200	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr7:150756400-150757200	Active TSS	Primary B cells from peripheral blood	blood
27	chr7:150756400-150757200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:150756400-150757200	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr7:150756400-150757200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr7:150756400-150757200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:150756400-150757200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:150756400-150757200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:150756400-150757200	Active TSS	Adipose Nuclei	Adipose
34	chr7:150756400-150757200	Active TSS	Brain Germinal Matrix	brain
35	chr7:150756400-150757200	Active TSS	Colonic Mucosa	Colon
36	chr7:150756400-150757200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr7:150756400-150757200	Weak transcription	Fetal Heart	heart
38	chr7:150756400-150757200	Active TSS	Fetal Intestine Large	intestine
39	chr7:150756400-150757200	Active TSS	Fetal Thymus	thymus
40	chr7:150756400-150757200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr7:150756400-150757200	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr7:150756400-150757200	Active TSS	Thymus	Thymus
43	chr7:150756400-150757200	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr7:150756400-150757400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:150756400-150757400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:150756400-150757400	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:150756400-150757400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:150756400-150757400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:150756400-150757400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr7:150756400-150757400	Active TSS	Brain Anterior Caudate	brain

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