Variant report

Variant	rs6988325
Chromosome Location	chr8:10591801-10591802
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr8:10591712-10592447	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr8:10591703-10592242	H1-hESC	embryonic stem cell:	n/a	n/a
3	GATA3	chr8:10591504-10592204	MCF-7	breast:	n/a	n/a
4	MAX	chr8:10591688-10591947	NB4	blood:	n/a	n/a
5	GATA3	chr8:10591630-10592058	MCF-7	breast:	n/a	n/a
6	E2F6	chr8:10591547-10592449	H1-hESC	embryonic stem cell:	n/a	chr8:10591915-10591924 chr8:10592170-10592177 chr8:10592309-10592318
7	CTBP2	chr8:10591586-10592697	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr8:10591668-10592381	H1-hESC	embryonic stem cell:	n/a	chr8:10591748-10591761 chr8:10591755-10591764
9	NRF1	chr8:10591599-10591924	H1-hESC	embryonic stem cell:	n/a	chr8:10591728-10591742 chr8:10591731-10591742
10	NRF1	chr8:10591606-10591921	GM12878	blood:	n/a	chr8:10591728-10591742 chr8:10591731-10591742
11	MAX	chr8:10591478-10592386	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr8:10591513-10592146	MCF-7	breast:	n/a	n/a
13	E2F6	chr8:10591570-10592346	H1-hESC	embryonic stem cell:	n/a	chr8:10591915-10591924 chr8:10592170-10592177 chr8:10592309-10592318
14	JUND	chr8:10591791-10592226	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr8:10591506-10592469	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr8:10591709-10592340	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF143	chr8:10591672-10592307	H1-hESC	embryonic stem cell:	n/a	chr8:10591754-10591764
18	YY1	chr8:10591593-10592166	H1-hESC	embryonic stem cell:	n/a	chr8:10591754-10591768 chr8:10591835-10591851 chr8:10591753-10591767
19	SPI1	chr8:10591752-10591951	GM12878	blood:	n/a	n/a
20	CTCF	chr8:10591800-10591950	BJ	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10591768-10591818	NH-A	brain:	n/a
2	chr8:10591768-10591818	HNPCEpiC	eye:	n/a
3	chr8:10591768-10591818	AG09309	skin:	n/a
4	chr8:10591768-10591818	NHDF-neo	bronchial:	n/a
5	chr8:10591768-10591818	HIPEpiC	eye:	n/a
6	chr8:10591768-10591818	GM19239	blood:	n/a
7	chr8:10591768-10591818	GM12892	blood:	n/a
8	chr8:10591768-10591818	SK-N-MC	brain:	n/a
9	chr8:10591768-10591818	A549	lung:	n/a
10	chr8:10591768-10591818	AoSMC	blood vessel:	n/a
11	chr8:10591768-10591818	T-47D	breast:	n/a
12	chr8:10591768-10591818	ProgFib	skin:	n/a
13	chr8:10591768-10591818	BE2_C	brain:	n/a
14	chr8:10591768-10591818	NHBE	bronchial:	n/a
15	chr8:10591768-10591818	BJ	skin:	n/a
16	chr8:10591768-10591818	NB4	blood:	n/a
17	chr8:10591768-10591818	ECC-1	luminal epithelium:	n/a
18	chr8:10591768-10591818	HMEC	breast:	n/a
19	chr8:10591768-10591818	NT2-D1	testis:	n/a
20	chr8:10591768-10591818	PFSK-1	brain:	n/a
21	chr8:10591768-10591818	HCF	heart:	n/a
22	chr8:10591768-10591818	U87	brain:	n/a
23	chr8:10591768-10591818	HCM	heart:	n/a
24	chr8:10591768-10591818	RPTEC	kidney:	n/a
25	chr8:10591768-10591818	SAEC	small airway:	n/a
26	chr8:10591768-10591818	AG10803	skin:	n/a
27	chr8:10591768-10591818	HAEpiC	amniotic membrane:	n/a
28	chr8:10591768-10591818	GM06990	blood:	n/a
29	chr8:10591768-10591818	IMR90	lung:	fetal
30	chr8:10591768-10591818	CMK	blood:	n/a
31	chr8:10591768-10591818	HEEpiC	esophagus:	n/a
32	chr8:10591768-10591818	AG04450	lung:	fetal
33	chr8:10591768-10591818	MCF-7	breast:	n/a
34	chr8:10591768-10591818	HCPEpiC	choroid plexus:	n/a
35	chr8:10591768-10591818	SK-N-SH	brain:	n/a
36	chr8:10591768-10591818	HRE	kidney:	n/a
37	chr8:10591768-10591818	Caco-2	colon:	n/a
38	chr8:10591768-10591818	GM12891	blood:	n/a
39	chr8:10591768-10591818	AG04449	skin:	fetal
40	chr8:10591768-10591818	SKMC	muscle:	n/a
41	chr8:10591768-10591818	HRCEpiC	kidney:	n/a
42	chr8:10591768-10591818	LNCaP	prostate:	n/a
43	chr8:10591768-10591818	HCT-116	colon:	n/a
44	chr8:10591768-10591818	GM12878	blood:	n/a
45	chr8:10591768-10591818	AG09319	gingival:	n/a
46	chr8:10591768-10591818	PANC-1	pancreas:	n/a
47	chr8:10591768-10591818	SK-N-SH_RA	brain:	n/a
48	chr8:10591768-10591818	MCF10A-Er-Src	breast:	n/a
49	chr8:10591768-10591818	HEK293	kidney:	embryo
50	chr8:10591768-10591818	HRPEpiC	eye:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10447712..10448262-chr8:10591419..10591945,2	MCF-7	breast:

No data

Variant related genes	Relation type
SOX7	TF binding region
SOX7	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10092781	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs10107180	0.82[CHD][hapmap]
rs10113343	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs11774893	0.90[ASN][1000 genomes]
rs2005311	0.83[JPT][hapmap]
rs2033369	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs2052963	0.83[JPT][hapmap]
rs2409651	0.80[JPT][hapmap]
rs4373489	0.94[ASN][1000 genomes]
rs55871318	0.91[ASN][1000 genomes]
rs6601524	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs6601525	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs7001206	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005905	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs73540612	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs752446	0.80[CHD][hapmap]
rs7826180	0.85[CEU][hapmap];0.80[CHD][hapmap];0.88[JPT][hapmap]
rs7826189	0.82[CHD][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
11	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10586600-10592600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr8:10587200-10592000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr8:10587400-10592400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:10587400-10592400	Bivalent Enhancer	Placenta	Placenta
5	chr8:10588000-10592000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr8:10588000-10592400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr8:10588400-10592000	Enhancers	Lung	lung
8	chr8:10588400-10592200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr8:10588800-10592400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr8:10588800-10592400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:10589600-10592200	Bivalent Enhancer	Spleen	Spleen
12	chr8:10589600-10592600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:10589800-10592200	Bivalent Enhancer	Fetal Lung	lung
14	chr8:10589800-10592400	Enhancers	Pancreas	Pancrea
15	chr8:10589800-10592600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr8:10590000-10592000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr8:10590000-10592400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:10590200-10592000	Flanking Active TSS	NHEK	skin
19	chr8:10590200-10592200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:10590400-10592200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:10590400-10592200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr8:10590400-10592400	Bivalent Enhancer	Fetal Thymus	thymus
23	chr8:10590600-10592400	Enhancers	HMEC	breast
24	chr8:10590800-10592000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:10590800-10592000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:10590800-10592000	Weak transcription	Gastric	stomach
27	chr8:10590800-10592200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr8:10590800-10592400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr8:10590800-10592400	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr8:10591000-10592000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:10591000-10592000	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr8:10591200-10592000	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr8:10591200-10592200	Enhancers	Brain Angular Gyrus	brain
34	chr8:10591200-10592200	Bivalent/Poised TSS	Colonic Mucosa	Colon
35	chr8:10591200-10592400	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr8:10591200-10592600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr8:10591200-10593400	Enhancers	Esophagus	oesophagus
38	chr8:10591400-10592000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr8:10591400-10592200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:10591400-10592200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr8:10591400-10592200	Bivalent/Poised TSS	NH-A	brain
42	chr8:10591400-10592400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:10591400-10592600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr8:10591600-10592000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:10591600-10592000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:10591600-10592000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr8:10591600-10592000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr8:10591600-10592000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chr8:10591600-10592200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:10591600-10592200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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