Variant report

Variant	rs5981288
Chromosome Location	chrX:73824905-73824906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:73820035..73821678-chrX:73823192..73825276,2	MCF-7	breast:
2	chrX:73823188..73828682-chrX:73829649..73834701,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131263	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12689586	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap]
rs16991794	1.00[CHB][hapmap];0.86[YRI][hapmap]
rs16991813	0.87[ASW][hapmap];0.89[GIH][hapmap]
rs3747436	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs5981287	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs5981655	1.00[CHB][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs6647520	0.84[CHB][hapmap]
rs6647521	0.84[CHB][hapmap]
rs6647531	0.84[CHB][hapmap]
rs6647537	0.84[CHB][hapmap]
rs7053631	1.00[CHB][hapmap];0.86[YRI][hapmap]
rs7056769	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7892560	1.00[CHB][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv532878	chrX:73603325-74057587	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv521472	chrX:73656415-73878101	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73798400-73832400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chrX:73800000-73833000	Weak transcription	Lung	lung
3	chrX:73801800-73832200	Weak transcription	NHLF	lung
4	chrX:73803400-73831400	Weak transcription	HMEC	breast
5	chrX:73803400-73833000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chrX:73806000-73833000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chrX:73810200-73833200	Weak transcription	Colonic Mucosa	Colon
8	chrX:73812200-73831800	Weak transcription	Brain Germinal Matrix	brain
9	chrX:73812200-73832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chrX:73812200-73832400	Weak transcription	Fetal Heart	heart
11	chrX:73812200-73832400	Weak transcription	K562	blood
12	chrX:73812200-73832600	Weak transcription	Right Ventricle	heart
13	chrX:73812200-73833000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chrX:73812200-73833200	Weak transcription	Pancreas	Pancrea
15	chrX:73812400-73832200	Weak transcription	Primary hematopoietic stem cells	blood
16	chrX:73812400-73832800	Weak transcription	Brain Angular Gyrus	brain
17	chrX:73812400-73833200	Weak transcription	Esophagus	oesophagus
18	chrX:73812400-73833200	Weak transcription	Gastric	stomach
19	chrX:73812600-73833000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chrX:73812600-73833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chrX:73812600-73833600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chrX:73812800-73831400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chrX:73812800-73832600	Weak transcription	Rectal Smooth Muscle	rectum
24	chrX:73812800-73833600	Weak transcription	Spleen	Spleen
25	chrX:73813800-73831400	Weak transcription	HUVEC	blood vessel
26	chrX:73813800-73831800	Weak transcription	Primary B cells from cord blood	blood
27	chrX:73813800-73832600	Weak transcription	Thymus	Thymus
28	chrX:73814000-73832600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chrX:73814000-73833000	Weak transcription	Brain Anterior Caudate	brain
30	chrX:73814200-73831400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chrX:73814200-73832000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chrX:73814400-73825000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chrX:73814400-73825400	Weak transcription	HepG2	liver
34	chrX:73814400-73828400	Weak transcription	NH-A	brain
35	chrX:73814400-73831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chrX:73814400-73831800	Weak transcription	Duodenum Mucosa	Duodenum
37	chrX:73815000-73826600	Weak transcription	Left Ventricle	heart
38	chrX:73815200-73832200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chrX:73815200-73832600	Weak transcription	NHDF-Ad	bronchial
40	chrX:73815200-73832800	Weak transcription	Fetal Intestine Large	intestine
41	chrX:73815200-73833000	Weak transcription	Placenta	Placenta
42	chrX:73815400-73831400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chrX:73815600-73828000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chrX:73815600-73832800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chrX:73815800-73831400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chrX:73815800-73833000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chrX:73816000-73826200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chrX:73816000-73831400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chrX:73816000-73832800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chrX:73816200-73825200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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