Variant report

Variant	rs13227734
Chromosome Location	chr7:70159290-70159291
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	CTCF	chr7:70159274-70159342	GM10248	blood:	n/a	n/a
2	TBP	chr7:70158344-70160933	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:70158876-70159702	GM18526	blood:	n/a	n/a
4	POLR2A	chr7:70158724-70159524	GM12878	blood:	n/a	n/a
5	TAF1	chr7:70159262-70159659	SK-N-SH	brain:	n/a	n/a
6	TAF1	chr7:70158577-70160526	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr7:70159054-70159379	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr7:70158462-70160914	SK-N-SH	brain:	n/a	chr7:70159545-70159554 chr7:70158835-70158851 chr7:70158814-70158823 chr7:70159569-70159585 chr7:70160591-70160604 chr7:70159542-70159551 chr7:70159780-70159789 chr7:70160556-70160572 chr7:70160426-70160442 chr7:70159113-70159129 chr7:70159154-70159163 chr7:70159579-70159588 chr7:70159451-70159460 chr7:70159152-70159161 chr7:70159145-70159161 chr7:70159114-70159123
9	TAF1	chr7:70158589-70160715	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:70158846-70159947	GM15510	blood:	n/a	n/a
11	MAX	chr7:70158189-70160388	SK-N-SH	brain:	n/a	chr7:70160138-70160148 chr7:70160206-70160216 chr7:70160327-70160337
12	TEAD4	chr7:70158555-70160395	SK-N-SH	brain:	n/a	n/a
13	ZNF143	chr7:70158660-70159689	GM12878	blood:	n/a	chr7:70158922-70158932 chr7:70158813-70158823 chr7:70158923-70158933
14	TAF7	chr7:70158837-70161889	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:70159286-70159328	LNCaP	prostate:	n/a	n/a
16	MXI1	chr7:70158075-70164106	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr7:70158610-70159365	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr7:70159277-70159372	Fibrobl	skin:	n/a	n/a
19	MAZ	chr7:70158575-70161415	GM12878	blood:	n/a	chr7:70160138-70160148 chr7:70160206-70160216 chr7:70160327-70160337
20	CHD1	chr7:70159050-70161957	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:70158687-70159613	Gliobla	brain:	n/a	n/a
22	POLR2A	chr7:70158848-70160017	Raji	blood:	n/a	n/a
23	HA-E2F1	chr7:70158493-70160197	MCF-7	breast:	n/a	chr7:70160156-70160171 chr7:70158922-70158932 chr7:70159545-70159555 chr7:70158814-70158823 chr7:70159578-70159588 chr7:70159779-70159789 chr7:70158923-70158933 chr7:70158902-70158911 chr7:70159542-70159552 chr7:70159199-70159209 chr7:70159112-70159122
24	SIN3A	chr7:70158090-70161853	H1-hESC	embryonic stem cell:	n/a	chr7:70159246-70159257
25	POLR2A	chr7:70158821-70159395	GM12892	blood:	n/a	n/a
26	CTCF	chr7:70159200-70159350	GM12872	blood:	n/a	n/a
27	RAD21	chr7:70157778-70163775	SK-N-SH	brain:	n/a	chr7:70159235-70159249 chr7:70159115-70159128 chr7:70160207-70160219 chr7:70163400-70163419 chr7:70159147-70159161 chr7:70160378-70160391
28	POLR2A	chr7:70158180-70160724	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr7:70157939-70162073	H1-neurons	neurons:	n/a	n/a
30	TAF7	chr7:70158900-70159351	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr7:70158857-70159306	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr7:70158784-70159643	ProgFib	skin:	n/a	n/a
33	POLR2A	chr7:70159275-70160479	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr7:70158115-70163862	H1-neurons	neurons:	n/a	chr7:70159372-70159392 chr7:70159374-70159384 chr7:70160206-70160219 chr7:70159181-70159199 chr7:70159562-70159582 chr7:70158787-70158800 chr7:70159372-70159386
35	POLR2A	chr7:70158740-70159737	HEK293	kidney:	n/a	n/a
36	CTCF	chr7:70159180-70159330	GM12865	blood:	n/a	n/a
37	CTCF	chr7:70159260-70159410	SAEC	small airway:	n/a	n/a
38	ZNF263	chr7:70158346-70160853	HEK293-T-REx	kidney:	n/a	chr7:70160191-70160200 chr7:70159478-70159499 chr7:70158522-70158531
39	POLR2A	chr7:70158165-70161899	H1-neurons	neurons:	n/a	n/a
40	ELF1	chr7:70159085-70160681	GM12878	blood:	n/a	chr7:70159151-70159163 chr7:70159577-70159586 chr7:70159544-70159553 chr7:70159547-70159556 chr7:70160258-70160270 chr7:70159543-70159555 chr7:70160207-70160219 chr7:70159541-70159550
41	SIN3AK20	chr7:70158545-70159664	SK-N-SH	brain:	n/a	n/a
42	MAZ	chr7:70158304-70161145	IMR90	lung:	n/a	chr7:70160138-70160148 chr7:70160206-70160216 chr7:70160327-70160337
43	SMC3	chr7:70158128-70164464	SK-N-SH	brain:	n/a	chr7:70162962-70162969 chr7:70159310-70159320 chr7:70159116-70159130 chr7:70159119-70159129
44	POLR2A	chr7:70158860-70161789	GM12878	blood:	n/a	n/a
45	MAX	chr7:70159278-70159785	ECC-1	luminal epithelium:	n/a	n/a
46	RAD21	chr7:70159026-70160728	IMR90	lung:	n/a	chr7:70159235-70159249 chr7:70159115-70159128 chr7:70160207-70160219 chr7:70159147-70159161 chr7:70160378-70160391
47	POLR2A	chr7:70158723-70159422	SK-N-MC	brain:	n/a	n/a
48	CTCF	chr7:70158479-70159482	GM12878	blood:	n/a	chr7:70158836-70158849 chr7:70159116-70159129
49	POLR2A	chr7:70158893-70159363	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:70158715-70161769	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70157686..70159380-chr7:70159994..70162274,2	MCF-7	breast:

Variant related genes	Relation type
AUTS2	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1031761	chr7:70125949-70182744	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv538933	chr7:70125949-70182744	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv3354362	chr7:70158241-70160989	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv3324748	chr7:70158266-70160839	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70158000-70160400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:70158200-70161800	Active TSS	NHDF-Ad	bronchial
3	chr7:70158400-70159800	Active TSS	Primary B cells from cord blood	blood
4	chr7:70158400-70160400	Active TSS	Colon Smooth Muscle	Colon
5	chr7:70158400-70160400	Bivalent/Poised TSS	HUVEC	blood vessel
6	chr7:70158400-70160800	Active TSS	Psoas Muscle	Psoas
7	chr7:70158400-70161000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:70158400-70161000	Active TSS	Osteobl	bone
9	chr7:70158400-70161200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:70158400-70161400	Active TSS	Brain Angular Gyrus	brain
11	chr7:70158400-70161600	Active TSS	Brain Substantia Nigra	brain
12	chr7:70158400-70161600	Active TSS	Ovary	ovary
13	chr7:70158400-70161800	Active TSS	Brain Hippocampus Middle	brain
14	chr7:70158400-70163600	Active TSS	Brain Anterior Caudate	brain
15	chr7:70158600-70159800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:70158600-70159800	Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr7:70158600-70159800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:70158600-70159800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:70158600-70160600	Active TSS	Spleen	Spleen
20	chr7:70158600-70161000	Active TSS	Primary T cells from cord blood	blood
21	chr7:70158600-70161000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr7:70158600-70161200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:70158600-70161200	Active TSS	HMEC	breast
24	chr7:70158600-70161400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:70158600-70161400	Active TSS	Esophagus	oesophagus
26	chr7:70158600-70161400	Active TSS	Left Ventricle	heart
27	chr7:70158600-70161400	Bivalent/Poised TSS	A549	lung
28	chr7:70158600-70161600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:70158600-70161600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:70158600-70161800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr7:70158600-70161800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:70158600-70161800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:70158600-70161800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:70158600-70161800	Active TSS	Fetal Intestine Large	intestine
35	chr7:70158600-70161800	Active TSS	Fetal Kidney	kidney
36	chr7:70158600-70161800	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:70158600-70162000	Active TSS	Aorta	Aorta
38	chr7:70158600-70162200	Active TSS	NHLF	lung
39	chr7:70158600-70164000	Active TSS	GM12878-XiMat	blood
40	chr7:70158800-70159400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:70158800-70159400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:70158800-70159400	Weak transcription	Placenta	Placenta
43	chr7:70158800-70159800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:70158800-70159800	Active TSS	Primary T cells fromperipheralblood	blood
45	chr7:70158800-70159800	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:70158800-70159800	Active TSS	Adipose Nuclei	Adipose
47	chr7:70158800-70159800	Active TSS	Brain Germinal Matrix	brain
48	chr7:70158800-70159800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr7:70158800-70159800	Weak transcription	Fetal Brain Male	brain
50	chr7:70158800-70159800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood

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