Variant report

Variant	rs3027550
Chromosome Location	chrX:76875358-76875359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs743074	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531129	chrX:76703995-77038914	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv529412	chrX:76711812-76957972	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3382160	chrX:76731246-76970544	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3368873	chrX:76731246-77122844	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3367037	chrX:76731346-77001644	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv3399586	chrX:76799846-77022144	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3413031	chrX:76808046-76981644	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3443309	chrX:76822346-77048294	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:76807000-76914800	Weak transcription	NHDF-Ad	bronchial
2	chrX:76809000-76889200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chrX:76811400-76877000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chrX:76813200-76955600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chrX:76814000-76905600	Weak transcription	NH-A	brain
6	chrX:76817800-76876600	Weak transcription	Small Intestine	intestine
7	chrX:76820600-76888200	Weak transcription	Primary T cells from cord blood	blood
8	chrX:76824800-76907000	Weak transcription	Lung	lung
9	chrX:76829800-76894200	Weak transcription	Brain Anterior Caudate	brain
10	chrX:76834000-76907000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chrX:76834200-76878000	Weak transcription	Pancreas	Pancrea
12	chrX:76834200-76898600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chrX:76834400-76877000	Weak transcription	Stomach Smooth Muscle	stomach
14	chrX:76834800-76895400	Weak transcription	Thymus	Thymus
15	chrX:76835000-76882400	Weak transcription	Fetal Intestine Small	intestine
16	chrX:76835000-76900600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chrX:76837600-76877600	Weak transcription	Brain Hippocampus Middle	brain
18	chrX:76838800-76906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chrX:76839400-76890000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chrX:76843000-76891000	Weak transcription	Primary hematopoietic stem cells	blood
21	chrX:76844600-76889800	Weak transcription	GM12878-XiMat	blood
22	chrX:76845600-76900600	Weak transcription	Placenta	Placenta
23	chrX:76846000-76877800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chrX:76848800-76898800	Weak transcription	Fetal Stomach	stomach
25	chrX:76852400-76923200	Weak transcription	HSMM	muscle
26	chrX:76853200-76924200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chrX:76853400-76894600	Weak transcription	Fetal Kidney	kidney
28	chrX:76854600-76887800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chrX:76854800-76895200	Weak transcription	Brain Germinal Matrix	brain
30	chrX:76855200-76888400	Weak transcription	Fetal Thymus	thymus
31	chrX:76855400-76878200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chrX:76860400-76877800	Weak transcription	Liver	Liver
33	chrX:76860400-76974400	Weak transcription	HepG2	liver
34	chrX:76863600-76938800	Weak transcription	Left Ventricle	heart
35	chrX:76864400-76931400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chrX:76864800-76893600	Weak transcription	Fetal Muscle Leg	muscle
37	chrX:76865000-76895400	Weak transcription	Fetal Lung	lung
38	chrX:76865400-76881800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chrX:76866600-76876400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chrX:76867000-76900600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chrX:76867200-76907000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chrX:76868200-76894200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chrX:76868400-76876400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chrX:76868600-76891000	Weak transcription	Colonic Mucosa	Colon
45	chrX:76868800-76878000	Weak transcription	Fetal Muscle Trunk	muscle
46	chrX:76868800-76886800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chrX:76869000-76881200	Weak transcription	Fetal Intestine Large	intestine
48	chrX:76869200-76886000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chrX:76869200-76900400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chrX:76869400-76876000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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