Variant report

Variant	rs2073176
Chromosome Location	chrX:77378266-77378267
allele	G/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	POLR2A	chrX:77370959-77379219	U87	brain:	n/a	n/a
2	POLR2A	chrX:77378263-77378443	ProgFib	skin:	n/a	n/a
3	POLR2A	chrX:77376583-77379420	HepG2	liver:	n/a	n/a
4	POLR2A	chrX:77378143-77378502	HepG2	liver:	n/a	n/a
5	POLR2A	chrX:77376506-77378320	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chrX:77370873-77379218	U87	brain:	n/a	n/a
7	POLR2A	chrX:77377708-77378577	A549	lung:	n/a	n/a
8	POLR2A	chrX:77378217-77378395	K562	blood:	n/a	n/a
9	POLR2A	chrX:77376203-77379113	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:77358423..77361508-chrX:77374658..77378510,3	MCF-7	breast:

Variant related genes	Relation type
PGK1	TF binding region
ENSG00000102144	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10991	0.90[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.95[YRI][hapmap]
rs167674	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs17139585	0.81[ASW][hapmap];0.80[CEU][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap]
rs2073178	0.81[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs2227291	0.82[TSI][hapmap]
rs2643581	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs320988	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs320990	0.90[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs320992	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs320995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap]
rs320996	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs320999	0.86[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap]
rs321005	0.86[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap]
rs321073	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs321074	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap]
rs321085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs321086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs321088	0.90[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs321090	0.86[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap]
rs321091	0.86[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs321094	0.86[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs321095	0.86[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs428207	0.86[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs4826248	0.90[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529299	chrX:77040316-77947157	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv532880	chrX:77085352-77769755	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:77361000-77382400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chrX:77361800-77394400	Weak transcription	Fetal Brain Male	brain
3	chrX:77362200-77394200	Weak transcription	Fetal Brain Female	brain
4	chrX:77362200-77394400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chrX:77364000-77380200	Weak transcription	Small Intestine	intestine
6	chrX:77364800-77385000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chrX:77365000-77385600	Strong transcription	Fetal Thymus	thymus
8	chrX:77365200-77384400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chrX:77365200-77386000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chrX:77365200-77386200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chrX:77365200-77389200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chrX:77365600-77389000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chrX:77365600-77394200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chrX:77366000-77385800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chrX:77366200-77383000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chrX:77366200-77383400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chrX:77366200-77385000	Strong transcription	Placenta	Placenta
18	chrX:77366600-77381200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chrX:77366600-77381600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chrX:77366600-77383200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chrX:77366800-77385600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chrX:77367000-77379000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chrX:77367000-77383600	Strong transcription	Stomach Smooth Muscle	stomach
24	chrX:77367200-77386000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chrX:77367200-77386600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chrX:77367200-77390200	Strong transcription	A549	lung
27	chrX:77367200-77390400	Strong transcription	Adipose Nuclei	Adipose
28	chrX:77367200-77394400	Weak transcription	Psoas Muscle	Psoas
29	chrX:77367600-77385000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chrX:77367800-77384000	Strong transcription	Hela-S3	cervix
31	chrX:77368400-77381400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chrX:77368400-77384400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chrX:77368400-77384600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chrX:77368800-77390200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chrX:77369600-77394400	Weak transcription	Right Ventricle	heart
36	chrX:77370600-77389200	Strong transcription	Liver	Liver
37	chrX:77370800-77386800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chrX:77371000-77379800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chrX:77372200-77385200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chrX:77372200-77385600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chrX:77372200-77385800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chrX:77372400-77386600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chrX:77372600-77381400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chrX:77372600-77386800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chrX:77372800-77383400	Strong transcription	K562	blood
46	chrX:77372800-77385200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chrX:77373000-77380000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chrX:77373000-77386400	Strong transcription	Fetal Intestine Large	intestine
49	chrX:77373200-77387800	Weak transcription	Fetal Heart	heart
50	chrX:77373400-77379800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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