Variant report

Variant	rs192690081
Chromosome Location	chrX:153715641-153715642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chrX:153714941-153715683	ECC-1	luminal epithelium:	n/a	n/a
2	PML	chrX:153715075-153715651	GM12878	blood:	n/a	n/a
3	SIN3AK20	chrX:153714843-153715723	MCF-7	breast:	n/a	n/a
4	POLR2A	chrX:153715287-153715735	K562	blood:	n/a	n/a
5	POLR2A	chrX:153715057-153715653	K562	blood:	n/a	n/a
6	EGR1	chrX:153714966-153715681	HCT-116	colon:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
7	POLR2A	chrX:153714772-153715659	IMR90	lung:	n/a	n/a
8	MAZ	chrX:153713615-153715759	IMR90	lung:	n/a	chrX:153714814-153714824 chrX:153715603-153715612 chrX:153714026-153714036
9	ZBTB7A	chrX:153715032-153715648	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chrX:153715046-153715658	K562	blood:	n/a	n/a
11	EGR1	chrX:153715087-153715681	MCF-7	breast:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
12	TCF12	chrX:153714898-153715697	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chrX:153711052-153715893	K562	blood:	n/a	n/a
14	POLR2A	chrX:153712367-153715675	K562	blood:	n/a	n/a
15	POLR2A	chrX:153712571-153715656	HepG2	liver:	n/a	n/a
16	GATA3	chrX:153714996-153715682	MCF-7	breast:	n/a	n/a
17	EGR1	chrX:153715061-153715724	HCT-116	colon:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
18	MTA3	chrX:153715139-153715648	GM12878	blood:	n/a	n/a
19	POLR2A	chrX:153715106-153715642	K562	blood:	n/a	n/a
20	POLR2A	chrX:153715009-153715643	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:153715609-153715659	NB4	blood:	n/a
2	chrX:153715609-153715659	HCM	heart:	n/a
3	chrX:153715609-153715659	RPTEC	kidney:	n/a
4	chrX:153715609-153715659	Jurkat	blood:	n/a
5	chrX:153715609-153715659	A549	lung:	n/a
6	chrX:153715609-153715659	NHDF-neo	bronchial:	n/a
7	chrX:153715609-153715659	HNPCEpiC	eye:	n/a
8	chrX:153715609-153715659	AoSMC	blood vessel:	n/a
9	chrX:153715609-153715659	ProgFib	skin:	n/a
10	chrX:153715609-153715659	HIPEpiC	eye:	n/a
11	chrX:153715609-153715659	HMEC	breast:	n/a
12	chrX:153715609-153715659	MCF-7	breast:	n/a
13	chrX:153715609-153715659	NHBE	bronchial:	n/a
14	chrX:153715609-153715659	AG09319	gingival:	n/a
15	chrX:153715609-153715659	CMK	blood:	n/a
16	chrX:153715609-153715659	SKMC	muscle:	n/a
17	chrX:153715609-153715659	BE2_C	brain:	n/a
18	chrX:153715609-153715659	HUVEC	blood vessel:	n/a
19	chrX:153715609-153715659	GM19239	blood:	n/a
20	chrX:153715609-153715659	MCF10A-Er-Src	breast:	n/a
21	chrX:153715609-153715659	U87	brain:	n/a
22	chrX:153715609-153715659	Caco-2	colon:	n/a
23	chrX:153715609-153715659	HPAEpiC	pulmonary alveolar:	n/a
24	chrX:153715609-153715659	HEEpiC	esophagus:	n/a
25	chrX:153715609-153715659	BJ	skin:	n/a
26	chrX:153715609-153715659	SAEC	small airway:	n/a
27	chrX:153715609-153715659	Hepatocyte	liver:	n/a
28	chrX:153715609-153715659	HepG2	liver:	n/a
29	chrX:153715609-153715659	HCT-116	colon:	n/a
30	chrX:153715609-153715659	GM12878	blood:	n/a
31	chrX:153715609-153715659	H1-hESC	embryonic stem cell:	embryo
32	chrX:153715609-153715659	PFSK-1	brain:	n/a
33	chrX:153715609-153715659	T-47D	breast:	n/a
34	chrX:153715609-153715659	SK-N-SH_RA	brain:	n/a
35	chrX:153715609-153715659	ovcar-3	ovarian:	n/a
36	chrX:153715609-153715659	HL-60	blood:	n/a
37	chrX:153715609-153715659	Hela-S3	cervix:	n/a
38	chrX:153715609-153715659	GM12891	blood:	n/a
39	chrX:153715609-153715659	AG04449	skin:	fetal
40	chrX:153715609-153715659	SK-N-MC	brain:	n/a
41	chrX:153715609-153715659	HRE	kidney:	n/a
42	chrX:153715609-153715659	NT2-D1	testis:	n/a
43	chrX:153715609-153715659	GM12892	blood:	n/a
44	chrX:153715609-153715659	K562	blood:	n/a
45	chrX:153715609-153715659	HAEpiC	amniotic membrane:	n/a
46	chrX:153715609-153715659	AG09309	skin:	n/a
47	chrX:153715609-153715659	HCPEpiC	choroid plexus:	n/a
48	chrX:153715609-153715659	HEK293	kidney:	embryo
49	chrX:153715609-153715659	HCF	heart:	n/a
50	chrX:153715609-153715659	PANC-1	pancreas:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:153644453..153647083-chrX:153713946..153716046,3	MCF-7	breast:
2	chrX:153711098..153721097-chrX:153740825..153747830,28	MCF-7	breast:
3	chrX:153715077..153717508-chrX:153733605..153735142,2	K562	blood:
4	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
5	chrX:153712862..153716379-chrX:153773449..153776383,5	MCF-7	breast:
6	chrX:153605453..153609525-chrX:153712051..153716179,6	MCF-7	breast:
7	chrX:153605593..153609893-chrX:153711571..153716768,6	K562	blood:
8	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
9	chr20:52824614..52827050-chrX:153713627..153715899,2	MCF-7	breast:
10	chrX:153624545..153632466-chrX:153709449..153721332,27	K562	blood:
11	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:
12	chrX:153697571..153703616-chrX:153709529..153715825,8	MCF-7	breast:
13	chrX:153648825..153650484-chrX:153715123..153717815,2	MCF-7	breast:
14	chrX:153691004..153695395-chrX:153711545..153717567,7	MCF-7	breast:
15	chrX:153624383..153633652-chrX:153704408..153721325,48	MCF-7	breast:
16	chrX:153624542..153632362-chrX:153710560..153721332,23	K562	blood:
17	chrX:153711592..153716888-chrX:153760694..153766504,10	MCF-7	breast:
18	chrX:153713355..153716352-chrX:153738180..153740001,2	K562	blood:
19	chrX:153713383..153715797-chrX:153769453..153771661,2	K562	blood:
20	chrX:153598007..153604368-chrX:153709391..153720590,15	MCF-7	breast:
21	chrX:153711607..153725784-chrX:153738770..153748754,27	K562	blood:
22	chrX:153714637..153717614-chrX:153774027..153776587,2	K562	blood:
23	chrX:153711367..153718079-chrX:153742298..153748484,13	K562	blood:
24	chrX:153596460..153601893-chrX:153713560..153721410,16	MCF-7	breast:
25	chrX:153576705..153579564-chrX:153713461..153716046,2	MCF-7	breast:
26	chrX:153684734..153690386-chrX:153710045..153718317,11	K562	blood:
27	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
28	chrX:153669908..153672690-chrX:153713868..153717711,4	MCF-7	breast:
29	chrX:153713080..153721291-chrX:153722442..153727868,15	K562	blood:
30	chrX:153684737..153690252-chrX:153712522..153716734,15	MCF-7	breast:
31	chrX:153237789..153240120-chrX:153715311..153716819,2	MCF-7	breast:
32	chrX:153234477..153236480-chrX:153714089..153717072,2	K562	blood:
33	chrX:153601928..153604764-chrX:153713001..153716367,3	MCF-7	breast:
34	chrX:153639079..153641453-chrX:153714284..153716430,2	K562	blood:

No data

Variant related genes	Relation type
UBL4A	TF binding region
UBL4A	CpG island
ENSG00000071859	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000177854	Chromatin interaction
ENSG00000235802	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000013563	Chromatin interaction

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

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	esv3433124	chrX:153714108-153716206	Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153710200-153719600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chrX:153711400-153718600	ZNF genes & repeats	Fetal Stomach	stomach
3	chrX:153714000-153715800	Weak transcription	Fetal Heart	heart
4	chrX:153714000-153715800	Active TSS	Right Atrium	heart
5	chrX:153714200-153715800	Active TSS	Gastric	stomach
6	chrX:153714200-153716200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chrX:153714600-153717800	Weak transcription	Primary T cells from cord blood	blood
8	chrX:153714800-153715800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chrX:153714800-153717600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chrX:153714800-153718000	Weak transcription	Fetal Kidney	kidney
11	chrX:153715200-153715800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chrX:153715200-153715800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chrX:153715200-153715800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chrX:153715200-153715800	Flanking Active TSS	Colonic Mucosa	Colon
15	chrX:153715200-153715800	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chrX:153715200-153715800	Flanking Active TSS	Dnd41	blood
17	chrX:153715200-153716000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chrX:153715200-153716400	Enhancers	Fetal Brain Male	brain
19	chrX:153715400-153715800	Enhancers	Primary B cells from cord blood	blood
20	chrX:153715400-153715800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chrX:153715400-153715800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chrX:153715400-153715800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chrX:153715400-153715800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chrX:153715400-153715800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chrX:153715400-153715800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chrX:153715400-153715800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
27	chrX:153715400-153715800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chrX:153715400-153715800	Weak transcription	GM12878-XiMat	blood
29	chrX:153715400-153715800	Flanking Active TSS	Hela-S3	cervix
30	chrX:153715400-153715800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chrX:153715400-153716000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chrX:153715400-153716000	Enhancers	Spleen	Spleen
33	chrX:153715400-153716200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chrX:153715400-153716200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chrX:153715400-153716600	ZNF genes & repeats	NHEK	skin
36	chrX:153715400-153717400	Weak transcription	Brain Cingulate Gyrus	brain
37	chrX:153715400-153717400	Weak transcription	NHDF-Ad	bronchial
38	chrX:153715400-153717600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chrX:153715400-153717600	Weak transcription	Brain Substantia Nigra	brain
40	chrX:153715400-153717600	Weak transcription	Fetal Lung	lung
41	chrX:153715400-153717800	Weak transcription	Colon Smooth Muscle	Colon
42	chrX:153715400-153718000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chrX:153715400-153718000	Weak transcription	Aorta	Aorta
44	chrX:153715400-153718000	Weak transcription	Small Intestine	intestine
45	chrX:153715400-153718000	Weak transcription	HSMMtube	muscle
46	chrX:153715600-153715800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chrX:153715600-153715800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chrX:153715600-153715800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chrX:153715600-153715800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chrX:153715600-153715800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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