Variant report

Variant	rs577999886
Chromosome Location	chr7:70158757-70158758
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	CHD2	chr7:70158661-70159209	H1-hESC	embryonic stem cell:	n/a	chr7:70158841-70158851
2	RAD21	chr7:70158380-70159255	H1-hESC	embryonic stem cell:	n/a	chr7:70159235-70159249 chr7:70159115-70159128 chr7:70159147-70159161
3	CTCF	chr7:70158660-70158810	HEK293	kidney:	n/a	n/a
4	CTCF	chr7:70158640-70158790	AG09309	skin:	n/a	n/a
5	CEBPB	chr7:70158582-70158901	A549	lung:	n/a	chr7:70158756-70158767
6	TBP	chr7:70158344-70160933	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:70158724-70159524	GM12878	blood:	n/a	n/a
8	TAF1	chr7:70158617-70159260	H1-neurons	neurons:	n/a	n/a
9	EBF1	chr7:70158710-70158998	GM12878	blood:	n/a	n/a
10	TAF1	chr7:70158338-70159276	H1-neurons	neurons:	n/a	n/a
11	CTCF	chr7:70158660-70158810	NHDF-neo	bronchial:	n/a	n/a
12	PAX5	chr7:70158627-70158943	GM12892	blood:	n/a	n/a
13	MAX	chr7:70158702-70159140	A549	lung:	n/a	n/a
14	CTCF	chr7:70158640-70158790	WERI-Rb-1	eye:	n/a	n/a
15	TAF1	chr7:70158577-70160526	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr7:70158640-70158790	HMEC	breast:	n/a	n/a
17	CTCF	chr7:70158700-70158850	AG04449	skin:	n/a	chr7:70158836-70158849
18	CTCF	chr7:70158620-70158770	AG10803	skin:	n/a	n/a
19	CTCF	chr7:70158527-70158935	H1-hESC	embryonic stem cell:	n/a	chr7:70158836-70158849
20	MAX	chr7:70158257-70159024	NB4	blood:	n/a	n/a
21	CTCF	chr7:70158640-70158790	GM12873	blood:	n/a	n/a
22	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
23	CEBPB	chr7:70158634-70158846	HepG2	liver:	n/a	chr7:70158756-70158767
24	CTCF	chr7:70158640-70158790	HCPEpiC	choroid plexus:	n/a	n/a
25	TAF1	chr7:70158589-70160715	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr7:70158640-70158790	BE2_C	brain:	n/a	n/a
27	CTCF	chr7:70158640-70158790	SAEC	small airway:	n/a	n/a
28	MAX	chr7:70158189-70160388	SK-N-SH	brain:	n/a	chr7:70160138-70160148 chr7:70160206-70160216 chr7:70160327-70160337
29	CTCF	chr7:70158660-70158810	GM12875	blood:	n/a	n/a
30	TEAD4	chr7:70158555-70160395	SK-N-SH	brain:	n/a	n/a
31	ZNF143	chr7:70158660-70159689	GM12878	blood:	n/a	chr7:70158922-70158932 chr7:70158813-70158823 chr7:70158923-70158933
32	RAD21	chr7:70158528-70158899	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr7:70158680-70158830	HRE	kidney:	n/a	n/a
34	SIN3AK20	chr7:70158711-70158931	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr7:70158640-70158790	GM12866	blood:	n/a	n/a
36	CTCF	chr7:70158640-70158790	HEEpiC	esophagus:	n/a	n/a
37	MXI1	chr7:70158075-70164106	SK-N-SH	brain:	n/a	n/a
38	PBX3	chr7:70158610-70159365	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr7:70158660-70158810	HCM	heart:	n/a	n/a
40	CTCF	chr7:70158620-70158770	HMF	breast:	n/a	n/a
41	CTCF	chr7:70158660-70158810	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr7:70158686-70158789	ProgFib	skin:	n/a	n/a
43	CTCF	chr7:70158620-70158770	HepG2	liver:	n/a	n/a
44	MAZ	chr7:70158575-70161415	GM12878	blood:	n/a	chr7:70160138-70160148 chr7:70160206-70160216 chr7:70160327-70160337
45	CTCF	chr7:70158660-70158810	HPF	lung:	n/a	n/a
46	POLR2A	chr7:70158687-70159613	Gliobla	brain:	n/a	n/a
47	CTCF	chr7:70158680-70158830	GM12874	blood:	n/a	n/a
48	RAD21	chr7:70158597-70158913	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr7:70158620-70158770	GM12867	blood:	n/a	n/a
50	CTCF	chr7:70158620-70158770	HPAF	blood vessel:	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70157800-70158800	Enhancers	Fetal Brain Male	brain
2	chr7:70158000-70160400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:70158200-70158800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:70158200-70158800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:70158200-70158800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr7:70158200-70158800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:70158200-70158800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr7:70158200-70158800	Flanking Active TSS	Fetal Lung	lung
9	chr7:70158200-70158800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:70158200-70158800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr7:70158200-70158800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr7:70158200-70158800	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr7:70158200-70161800	Active TSS	NHDF-Ad	bronchial
14	chr7:70158400-70158800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:70158400-70158800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:70158400-70158800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:70158400-70158800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:70158400-70158800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:70158400-70158800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:70158400-70158800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:70158400-70158800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:70158400-70158800	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr7:70158400-70158800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr7:70158400-70158800	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr7:70158400-70158800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr7:70158400-70158800	Flanking Active TSS	Fetal Brain Female	brain
27	chr7:70158400-70158800	Enhancers	Fetal Heart	heart
28	chr7:70158400-70158800	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr7:70158400-70158800	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr7:70158400-70158800	Flanking Active TSS	Fetal Stomach	stomach
31	chr7:70158400-70158800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
32	chr7:70158400-70158800	Flanking Active TSS	Gastric	stomach
33	chr7:70158400-70158800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr7:70158400-70158800	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr7:70158400-70158800	Flanking Bivalent TSS/Enh	Thymus	Thymus
36	chr7:70158400-70158800	Flanking Active TSS	HSMM	muscle
37	chr7:70158400-70158800	Flanking Active TSS	HSMMtube	muscle
38	chr7:70158400-70158800	Flanking Active TSS	NH-A	brain
39	chr7:70158400-70159000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:70158400-70159000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:70158400-70159000	Flanking Active TSS	Dnd41	blood
42	chr7:70158400-70159800	Active TSS	Primary B cells from cord blood	blood
43	chr7:70158400-70160400	Active TSS	Colon Smooth Muscle	Colon
44	chr7:70158400-70160400	Bivalent/Poised TSS	HUVEC	blood vessel
45	chr7:70158400-70160800	Active TSS	Psoas Muscle	Psoas
46	chr7:70158400-70161000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:70158400-70161000	Active TSS	Osteobl	bone
48	chr7:70158400-70161200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:70158400-70161400	Active TSS	Brain Angular Gyrus	brain
50	chr7:70158400-70161600	Active TSS	Brain Substantia Nigra	brain

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