Variant report

Variant	rs953177
Chromosome Location	chr8:66933620-66933621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:66932990-66933724	ECC-1	luminal epithelium:	n/a	n/a
2	SIN3AK20	chr8:66932912-66933659	MCF-7	breast:	n/a	n/a
3	ESR1	chr8:66932932-66933662	T-47D	breast:	n/a	n/a
4	NFIC	chr8:66932853-66934135	ECC-1	luminal epithelium:	n/a	n/a
5	GATA3	chr8:66932868-66933731	T-47D	breast:	n/a	n/a
6	HDAC2	chr8:66932942-66933640	MCF-7	breast:	n/a	chr8:66933183-66933191
7	EP300	chr8:66932885-66933705	ECC-1	luminal epithelium:	n/a	n/a
8	GATA3	chr8:66932932-66933798	T-47D	breast:	n/a	n/a
9	JUND	chr8:66932911-66933629	T-47D	breast:	n/a	n/a
10	FOXA1	chr8:66933058-66933637	T-47D	breast:	n/a	n/a
11	TEAD4	chr8:66933091-66933866	ECC-1	luminal epithelium:	n/a	n/a
12	GATA3	chr8:66932618-66933688	MCF-7	breast:	n/a	n/a
13	ESR1	chr8:66933005-66933697	T-47D	breast:	n/a	n/a
14	TCF12	chr8:66932717-66933831	MCF-7	breast:	n/a	n/a
15	GATA3	chr8:66932987-66933736	MCF-7	breast:	n/a	n/a
16	FOXM1	chr8:66932963-66933676	ECC-1	luminal epithelium:	n/a	n/a
17	TCF12	chr8:66932766-66934001	ECC-1	luminal epithelium:	n/a	n/a
18	TCF12	chr8:66932796-66934138	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF263	chr8:66932351-66933868	HEK293-T-REx	kidney:	n/a	chr8:66932772-66932781
20	NFIC	chr8:66932914-66933667	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr8:66932808-66933876	MCF-7	breast:	n/a	n/a
22	GATA3	chr8:66932732-66933626	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66752746..66756404-chr8:66931747..66936511,11	MCF-7	breast:
2	chr8:66752587..66755352-chr8:66933051..66936501,7	MCF-7	breast:
3	chr8:66750114..66752616-chr8:66932184..66934106,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRH-4	chr8:66933570-66933720	XLOC_007107

No data

Variant related genes	Relation type
DNAJC5B	TF binding region
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11987232	1.00[ASN][1000 genomes]
rs11994535	0.83[ASN][1000 genomes]
rs11995869	1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs16932389	0.91[EUR][1000 genomes]
rs16932391	0.83[EUR][1000 genomes]
rs16932394	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs16932396	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs16932415	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs16932422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932424	1.00[CEU][hapmap]
rs16932436	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16932440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16932441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2357662	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28671004	0.87[EUR][1000 genomes]
rs34178379	0.83[ASN][1000 genomes]
rs3922725	0.83[ASN][1000 genomes]
rs3922726	0.83[ASN][1000 genomes]
rs4636189	1.00[CEU][hapmap]
rs55636103	0.83[ASN][1000 genomes]
rs56200451	0.83[ASN][1000 genomes]
rs57033118	0.83[ASN][1000 genomes]
rs57633306	0.80[EUR][1000 genomes]
rs57896411	1.00[ASN][1000 genomes]
rs58122259	0.83[ASN][1000 genomes]
rs58165070	0.94[ASN][1000 genomes]
rs58407124	0.83[ASN][1000 genomes]
rs58423697	0.91[EUR][1000 genomes]
rs58556742	0.84[ASN][1000 genomes]
rs58681615	0.83[ASN][1000 genomes]
rs59321109	0.83[ASN][1000 genomes]
rs59436889	0.83[ASN][1000 genomes]
rs60109751	0.83[ASN][1000 genomes]
rs60866025	0.84[ASN][1000 genomes]
rs60924938	0.91[EUR][1000 genomes]
rs61038961	0.80[EUR][1000 genomes]
rs61357987	0.91[EUR][1000 genomes]
rs61492394	0.83[ASN][1000 genomes]
rs6980631	0.83[ASN][1000 genomes]
rs6989783	0.89[EUR][1000 genomes]
rs6998320	0.83[EUR][1000 genomes]
rs6999945	0.83[ASN][1000 genomes]
rs7001192	0.83[EUR][1000 genomes]
rs7001442	0.87[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7005571	0.85[JPT][hapmap]
rs7006472	0.83[ASN][1000 genomes]
rs7009416	0.91[EUR][1000 genomes]
rs7010977	0.83[ASN][1000 genomes]
rs7011003	0.83[ASN][1000 genomes]
rs7014758	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs7016261	0.83[EUR][1000 genomes]
rs7017603	1.00[CEU][hapmap]
rs73237254	0.91[EUR][1000 genomes]
rs73237256	0.91[EUR][1000 genomes]
rs73237268	0.91[EUR][1000 genomes]
rs73237302	0.93[EUR][1000 genomes]
rs73247098	0.83[ASN][1000 genomes]
rs73248906	0.83[ASN][1000 genomes]
rs73248909	0.83[ASN][1000 genomes]
rs73248984	0.83[ASN][1000 genomes]
rs73252340	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463507	0.83[ASN][1000 genomes]
rs7813023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7814441	0.83[ASN][1000 genomes]
rs7815318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7815325	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs7821744	0.85[JPT][hapmap]
rs7827556	1.00[CEU][hapmap]
rs7833724	0.83[ASN][1000 genomes]
rs9298108	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9693171	0.83[EUR][1000 genomes]
rs9693187	0.83[EUR][1000 genomes]
rs9694791	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66923200-66934400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:66923200-66934600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:66928400-66934600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:66929000-66935200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:66931000-66938800	Weak transcription	Spleen	Spleen
6	chr8:66931600-66934000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:66931600-66934400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:66931600-66934400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:66931600-66935400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:66931600-66938800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:66932600-66935000	Enhancers	Stomach Mucosa	stomach
12	chr8:66932800-66933800	Enhancers	Pancreas	Pancrea
13	chr8:66932800-66934800	Enhancers	Esophagus	oesophagus
14	chr8:66933000-66933800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:66933000-66933800	Enhancers	Lung	lung
16	chr8:66933000-66934600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:66933000-66935000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:66933000-66935000	Enhancers	NHEK	skin
19	chr8:66933200-66933800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:66933200-66934800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:66933200-66934800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:66933200-66935400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:66933400-66934600	Enhancers	Psoas Muscle	Psoas
24	chr8:66933400-66934800	Enhancers	Fetal Muscle Leg	muscle
25	chr8:66933400-66934800	Flanking Active TSS	Hela-S3	cervix
26	chr8:66933400-66935600	Enhancers	Fetal Thymus	thymus
27	chr8:66933400-66935600	Flanking Active TSS	A549	lung
28	chr8:66933600-66933800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:66933600-66933800	Enhancers	Adipose Nuclei	Adipose
30	chr8:66933600-66933800	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:66933600-66934000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr8:66933600-66934200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:66933600-66934200	Enhancers	Gastric	stomach
34	chr8:66933600-66934200	Enhancers	Right Atrium	heart
35	chr8:66933600-66934600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr8:66933600-66934600	Enhancers	K562	blood
37	chr8:66933600-66934800	Enhancers	Thymus	Thymus
38	chr8:66933600-66935000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:66933600-66935000	Enhancers	Fetal Intestine Small	intestine
40	chr8:66933600-66935000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr8:66933600-66935400	Enhancers	Left Ventricle	heart
42	chr8:66933600-66935600	Enhancers	NHDF-Ad	bronchial
43	chr8:66933600-66935600	Enhancers	NHLF	lung
44	chr8:66933600-66936200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:66933600-66936200	Enhancers	Small Intestine	intestine

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