Variant report

Variant	rs2070807
Chromosome Location	chrX:153637305-153637306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:153637241-153638025	PANC-1	pancreas:	n/a	n/a
2	RFX5	chrX:153637236-153638372	Hela-S3	cervix:	n/a	chrX:153637857-153637865 chrX:153637859-153637874 chrX:153637685-153637693 chrX:153637863-153637872
3	E2F6	chrX:153637224-153637477	K562	blood:	n/a	n/a
4	MAZ	chrX:153637177-153638238	IMR90	lung:	n/a	n/a
5	GABPA	chrX:153637155-153638006	MCF-7	breast:	n/a	n/a
6	POLR2A	chrX:153637154-153638099	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chrX:153637078-153638082	K562	blood:	n/a	n/a
8	POLR2A	chrX:153637244-153637962	U87	brain:	n/a	n/a
9	ELF1	chrX:153637226-153637778	K562	blood:	n/a	chrX:153637547-153637558
10	POLR2A	chrX:153636935-153638214	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chrX:153637179-153638291	K562	blood:	n/a	n/a
12	SMARCB1	chrX:153636937-153638203	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chrX:153636816-153638209	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chrX:153637161-153638184	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chrX:153637278-153637970	SK-N-SH	brain:	n/a	n/a
16	RFX5	chrX:153637260-153638398	IMR90	lung:	n/a	chrX:153637857-153637865 chrX:153637859-153637874 chrX:153637685-153637693 chrX:153637863-153637872
17	POLR2A	chrX:153636935-153638057	K562	blood:	n/a	n/a
18	SPI1	chrX:153637201-153637881	HL-60	blood:	n/a	chrX:153637550-153637557 chrX:153637546-153637559 chrX:153637552-153637565
19	POLR2A	chrX:153637225-153638189	GM12892	blood:	n/a	n/a
20	POLR2A	chrX:153637200-153638148	PFSK-1	brain:	n/a	n/a
21	POLR2A	chrX:153637170-153638037	K562	blood:	n/a	n/a
22	POLR2A	chrX:153637211-153638171	H1-hESC	embryonic stem cell:	n/a	n/a
23	HMGN3	chrX:153637285-153637983	K562	blood:	n/a	n/a
24	POLR2A	chrX:153637290-153638164	MCF-7	breast:	n/a	n/a
25	POLR2A	chrX:153637223-153638302	HepG2	liver:	n/a	n/a
26	POLR2A	chrX:153637260-153638205	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chrX:153637232-153638031	PBDE	blood:	n/a	n/a
28	POLR2A	chrX:153637142-153638114	U87	brain:	n/a	n/a
29	MAX	chrX:153636706-153638104	K562	blood:	n/a	chrX:153636809-153636819 chrX:153636932-153636942
30	SPI1	chrX:153637258-153637788	HL-60	blood:	n/a	chrX:153637550-153637557 chrX:153637546-153637559 chrX:153637552-153637565
31	POLR2A	chrX:153637257-153638148	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:153637261-153637311	CMK	blood:	n/a
2	chrX:153637261-153637311	HCM	heart:	n/a
3	chrX:153637261-153637311	LNCaP	prostate:	n/a
4	chrX:153637261-153637311	AG04450	lung:	fetal
5	chrX:153637261-153637311	SK-N-MC	brain:	n/a
6	chrX:153637261-153637311	AG10803	skin:	n/a
7	chrX:153637261-153637311	NHBE	bronchial:	n/a
8	chrX:153637261-153637311	Hela-S3	cervix:	n/a
9	chrX:153637261-153637311	SK-N-SH	brain:	n/a
10	chrX:153637261-153637311	SAEC	small airway:	n/a
11	chrX:153637261-153637311	AoSMC	blood vessel:	n/a
12	chrX:153637261-153637311	PrEC	prostate:	n/a
13	chrX:153637261-153637311	Jurkat	blood:	n/a
14	chrX:153637261-153637311	HPAEpiC	pulmonary alveolar:	n/a
15	chrX:153637261-153637311	NHDF-neo	bronchial:	n/a
16	chrX:153637261-153637311	ProgFib	skin:	n/a
17	chrX:153637261-153637311	GM19239	blood:	n/a
18	chrX:153637261-153637311	HepG2	liver:	n/a
19	chrX:153637261-153637311	PFSK-1	brain:	n/a
20	chrX:153637261-153637311	HRCEpiC	kidney:	n/a
21	chrX:153637261-153637311	AG04449	skin:	fetal
22	chrX:153637261-153637311	RPTEC	kidney:	n/a
23	chrX:153637261-153637311	NT2-D1	testis:	n/a
24	chrX:153637261-153637311	A549	lung:	n/a
25	chrX:153637261-153637311	HNPCEpiC	eye:	n/a
26	chrX:153637261-153637311	HCT-116	colon:	n/a
27	chrX:153637261-153637311	MCF10A-Er-Src	breast:	n/a
28	chrX:153637261-153637311	T-47D	breast:	n/a
29	chrX:153637261-153637311	GM12878	blood:	n/a
30	chrX:153637261-153637311	PANC-1	pancreas:	n/a
31	chrX:153637261-153637311	SK-N-SH_RA	brain:	n/a
32	chrX:153637261-153637311	HIPEpiC	eye:	n/a
33	chrX:153637261-153637311	ovcar-3	ovarian:	n/a
34	chrX:153637261-153637311	AG09319	gingival:	n/a
35	chrX:153637261-153637311	GM06990	blood:	n/a
36	chrX:153637261-153637311	HRPEpiC	eye:	n/a
37	chrX:153637261-153637311	NH-A	brain:	n/a
38	chrX:153637261-153637311	H1-hESC	embryonic stem cell:	embryo
39	chrX:153637261-153637311	AG09309	skin:	n/a
40	chrX:153637261-153637311	HMEC	breast:	n/a
41	chrX:153637261-153637311	NB4	blood:	n/a
42	chrX:153637261-153637311	MCF-7	breast:	n/a
43	chrX:153637261-153637311	HUVEC	blood vessel:	n/a
44	chrX:153637261-153637311	HRE	kidney:	n/a
45	chrX:153637261-153637311	HL-60	blood:	n/a
46	chrX:153637261-153637311	Hepatocyte	liver:	n/a
47	chrX:153637261-153637311	GM12892	blood:	n/a
48	chrX:153637261-153637311	Caco-2	colon:	n/a
49	chrX:153637261-153637311	HCF	heart:	n/a
50	chrX:153637261-153637311	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chrX:153636674..153639285-chrX:153640930..153642751,3	K562	blood:
2	X:153635385-153648319..X:153719993-153730954	K562	blood:
3	chrX:153635955..153640116-chrX:153716960..153720383,9	MCF-7	breast:
4	chrX:153636168..153639473-chrX:153663428..153667737,8	MCF-7	breast:
5	chrX:153636942..153639438-chrX:154001357..154003573,2	MCF-7	breast:
6	chrX:153635755..153638655-chrX:153711241..153715335,3	K562	blood:
7	chrX:153636134..153637859-chrX:153779117..153782021,2	K562	blood:
8	chrX:153635709..153642538-chrX:153670680..153677148,19	MCF-7	breast:
9	chrX:153606188..153609065-chrX:153635251..153638815,4	K562	blood:
10	chrX:153636614..153641269-chrX:153685095..153689085,10	K562	blood:
11	chrX:153635949..153638867-chrX:153759351..153764170,5	K562	blood:
12	X:153635385-153648319..X:154053104-154056925	K562	blood:
13	chrX:153635374..153637551-chrX:153713070..153714974,2	MCF-7	breast:
14	chrX:153596666..153604722-chrX:153634859..153642638,15	MCF-7	breast:
15	chrX:153636968..153642703-chrX:153655950..153660514,11	MCF-7	breast:
16	chrX:153594620..153614384-chrX:153624179..153643019,157	MCF-7	breast:
17	chrX:153606188..153609125-chrX:153636132..153638815,4	K562	blood:
18	chrX:153597566..153600681-chrX:153636229..153641525,5	K562	blood:
19	chrX:153635949..153638622-chrX:153761655..153764170,2	K562	blood:
20	chrX:153606713..153609473-chrX:153636434..153638152,2	MCF-7	breast:
21	chrX:153636614..153641280-chrX:153684777..153688997,8	K562	blood:
22	chrX:153636582..153642277-chrX:153772882..153776754,8	MCF-7	breast:

No data

Variant related genes	Relation type
TAZ	TF binding region
DNASE1L1	TF binding region
TAZ	CpG island
DNASE1L1	CpG island
ENSG00000264783	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000197180	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000203870	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000071859	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000206693	Chromatin interaction
ENSG00000130826	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1130929	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11593	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12007167	0.90[ASW][hapmap]
rs12559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2051508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs2070643	0.87[JPT][hapmap]
rs2070816	0.80[ASW][hapmap]
rs2070819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap]
rs2070821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap]
rs2070825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap]
rs2070827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap]
rs2070829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2097214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2156911	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2239469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2283762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs28602900	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4898484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4898494	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs6727	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs743547	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs743548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs743549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs762514	1.00[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs7886627	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs915941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap]
rs915942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531227	chrX:152864376-153655730	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
3	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
4	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
5	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
6	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
7	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
8	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
9	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153628200-153639600	Weak transcription	Small Intestine	intestine
2	chrX:153628400-153639400	Weak transcription	Ovary	ovary
3	chrX:153628600-153639400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chrX:153628800-153637400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chrX:153628800-153637600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chrX:153628800-153639400	Weak transcription	Fetal Lung	lung
7	chrX:153629200-153639400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chrX:153629600-153639200	Weak transcription	GM12878-XiMat	blood
9	chrX:153629800-153639000	Weak transcription	Dnd41	blood
10	chrX:153629800-153639200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chrX:153629800-153639200	Weak transcription	Fetal Kidney	kidney
12	chrX:153629800-153639400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chrX:153630000-153639200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chrX:153630000-153639400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chrX:153630000-153639400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chrX:153630000-153639400	Weak transcription	Brain Substantia Nigra	brain
17	chrX:153630000-153639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chrX:153630400-153637400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chrX:153630400-153639400	Weak transcription	Pancreas	Pancrea
20	chrX:153631200-153639200	Weak transcription	Brain Germinal Matrix	brain
21	chrX:153631200-153639400	Weak transcription	Liver	Liver
22	chrX:153636400-153638000	Active TSS	HSMM	muscle
23	chrX:153636600-153637600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chrX:153636600-153637800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chrX:153636600-153638000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chrX:153636600-153638000	Active TSS	Brain Cingulate Gyrus	brain
27	chrX:153636600-153638000	Active TSS	Psoas Muscle	Psoas
28	chrX:153636600-153638200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chrX:153636600-153638200	Active TSS	HSMMtube	muscle
30	chrX:153636600-153638200	Flanking Active TSS	Osteobl	bone
31	chrX:153636600-153638400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chrX:153636600-153638600	Flanking Active TSS	Hela-S3	cervix
33	chrX:153636800-153637400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chrX:153636800-153637400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chrX:153636800-153637400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chrX:153636800-153637400	Active TSS	Brain Angular Gyrus	brain
37	chrX:153636800-153637400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chrX:153636800-153637400	Flanking Active TSS	A549	lung
39	chrX:153636800-153637400	Flanking Active TSS	HepG2	liver
40	chrX:153636800-153637400	Flanking Active TSS	K562	blood
41	chrX:153636800-153637600	Enhancers	Spleen	Spleen
42	chrX:153636800-153637600	Flanking Active TSS	NHEK	skin
43	chrX:153636800-153637800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chrX:153636800-153638000	Active TSS	Brain Anterior Caudate	brain
45	chrX:153636800-153638000	Active TSS	Colonic Mucosa	Colon
46	chrX:153636800-153638000	Active TSS	Duodenum Mucosa	Duodenum
47	chrX:153636800-153638000	Active TSS	Left Ventricle	heart
48	chrX:153636800-153638000	Active TSS	Placenta Amnion	Placenta Amnion
49	chrX:153636800-153638000	Active TSS	Right Ventricle	heart
50	chrX:153636800-153638200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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