Variant report

Variant	rs913440
Chromosome Location	chrX:55745083-55745084
allele	C/T
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	CHD1	chrX:55743772-55745165	GM12878	blood:	n/a	n/a
2	ELK1	chrX:55743757-55745142	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chrX:55743744-55745106	GM18505	blood:	n/a	n/a
4	RCOR1	chrX:55743476-55745276	Hela-S3	cervix:	n/a	n/a
5	SMC3	chrX:55743682-55745220	Hela-S3	cervix:	n/a	chrX:55745066-55745074
6	CTCF	chrX:55744300-55745110	K562	blood:	n/a	n/a
7	SIN3A	chrX:55743914-55745210	H1-hESC	embryonic stem cell:	n/a	chrX:55744186-55744195 chrX:55744154-55744163 chrX:55744188-55744197 chrX:55744064-55744073 chrX:55744099-55744108
8	RAD21	chrX:55743862-55745140	Hela-S3	cervix:	n/a	n/a
9	MAX	chrX:55743892-55745108	GM12878	blood:	n/a	chrX:55744063-55744076 chrX:55744185-55744200 chrX:55744065-55744074 chrX:55744182-55744201 chrX:55744155-55744164 chrX:55744155-55744164 chrX:55744063-55744076 chrX:55744155-55744164
10	CTCF	chrX:55743929-55745412	A549	lung:	n/a	chrX:55744270-55744283
11	NFYA	chrX:55743894-55745090	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chrX:55744841-55745087	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chrX:55745060-55745210	GM12864	blood:	n/a	n/a
14	POLR2A	chrX:55743734-55745190	GM12878	blood:	n/a	n/a
15	CTCF	chrX:55745000-55745150	A549	lung:	n/a	n/a
16	CTCF	chrX:55743865-55745230	SK-N-SH	brain:	n/a	chrX:55744270-55744283
17	GATA1	chrX:55743886-55745103	PBDE	blood:	n/a	chrX:55744477-55744487 chrX:55744189-55744200
18	RAD21	chrX:55743993-55745198	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chrX:55744893-55745155	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chrX:55744109-55745172	HCT-116	colon:	n/a	chrX:55744270-55744283
21	POLR2A	chrX:55743886-55745124	GM12892	blood:	n/a	n/a
22	HCFC1	chrX:55743419-55745190	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chrX:55743626-55745229	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chrX:55743855-55745170	Hela-S3	cervix:	n/a	n/a
25	CTCF	chrX:55743917-55745147	GM12878	blood:	n/a	chrX:55744270-55744283
26	SMC3	chrX:55744194-55745114	GM12878	blood:	n/a	chrX:55745066-55745074
27	POLR2A	chrX:55743706-55745351	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:55743259..55745403-chrX:56589658..56591573,2	MCF-7	breast:
2	chrX:55478272..55480275-chrX:55742945..55745674,2	MCF-7	breast:
3	chrX:55744400..55746852-chrX:55753223..55755177,2	MCF-7	breast:
4	chrX:55515441..55517417-chrX:55743446..55745792,2	MCF-7	breast:
5	chrX:55744136..55745947-chrX:55757019..55759912,2	MCF-7	breast:

Variant related genes	Relation type
RRAGB	TF binding region
ENSG00000083750	Chromatin interaction
ENSG00000187601	Chromatin interaction
ENSG00000188021	Chromatin interaction
ENSG00000247746	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1007153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12557467	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1325573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1473760	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17277280	0.93[CEU][hapmap]
rs1927597	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2375466	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5000659	0.93[CEU][hapmap]
rs5913857	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914428	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914433	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914436	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5914440	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5960093	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6611431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6612417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55743400-55745200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chrX:55743400-55745200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chrX:55743400-55745200	Active TSS	Pancreas	Pancrea
4	chrX:55743400-55745400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chrX:55743400-55745400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chrX:55743400-55745400	Active TSS	Brain Cingulate Gyrus	brain
7	chrX:55743400-55745400	Active TSS	Brain Hippocampus Middle	brain
8	chrX:55743400-55745400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chrX:55743400-55745600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chrX:55743400-55745600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chrX:55743400-55745600	Active TSS	A549	lung
12	chrX:55743400-55745800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chrX:55743600-55745200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chrX:55743600-55745200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chrX:55743600-55745200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chrX:55743600-55745200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chrX:55743600-55745200	Active TSS	Muscle Satellite Cultured Cells	--
18	chrX:55743600-55745200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chrX:55743600-55745200	Active TSS	Ovary	ovary
20	chrX:55743600-55745200	Active TSS	Rectal Smooth Muscle	rectum
21	chrX:55743600-55745200	Active TSS	NHLF	lung
22	chrX:55743600-55745400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chrX:55743600-55745400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chrX:55743600-55745400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chrX:55743600-55745400	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chrX:55743600-55745400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chrX:55743600-55745400	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chrX:55743600-55745400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chrX:55743600-55745400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chrX:55743600-55745400	Active TSS	Fetal Intestine Large	intestine
31	chrX:55743600-55745400	Active TSS	Fetal Intestine Small	intestine
32	chrX:55743600-55745400	Active TSS	Fetal Kidney	kidney
33	chrX:55743600-55745400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chrX:55743600-55745400	Active TSS	Psoas Muscle	Psoas
35	chrX:55743600-55745400	Active TSS	Right Atrium	heart
36	chrX:55743600-55745400	Active TSS	Right Ventricle	heart
37	chrX:55743600-55745400	Active TSS	Thymus	Thymus
38	chrX:55743600-55745400	Active TSS	HepG2	liver
39	chrX:55743600-55745400	Active TSS	HMEC	breast
40	chrX:55743600-55745400	Active TSS	HSMMtube	muscle
41	chrX:55743600-55745600	Active TSS	Fetal Brain Female	brain
42	chrX:55743600-55745600	Active TSS	K562	blood
43	chrX:55743600-55746200	Active TSS	GM12878-XiMat	blood
44	chrX:55743600-55747600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chrX:55743800-55745200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chrX:55743800-55745200	Active TSS	Brain Germinal Matrix	brain
47	chrX:55743800-55745200	Active TSS	Colon Smooth Muscle	Colon
48	chrX:55743800-55745200	ZNF genes & repeats	Placenta	Placenta
49	chrX:55743800-55745200	Active TSS	Stomach Mucosa	stomach
50	chrX:55743800-55745200	Active TSS	Hela-S3	cervix

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