Variant report

Variant	rs185605730
Chromosome Location	chrX:153664522-153664523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:153664315-153664684	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chrX:153664498-153665133	K562	blood:	n/a	n/a
3	POLR2A	chrX:153664340-153664541	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chrX:153664515-153664609	K562	blood:	n/a	n/a
5	POLR2A	chrX:153661478-153664565	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:153664475-153664525	A549	lung:	n/a
2	chrX:153664475-153664525	NHDF-neo	bronchial:	n/a
3	chrX:153664475-153664525	H1-hESC	embryonic stem cell:	embryo
4	chrX:153664475-153664525	MCF10A-Er-Src	breast:	n/a
5	chrX:153664475-153664525	PANC-1	pancreas:	n/a
6	chrX:153664475-153664525	AG04449	skin:	fetal
7	chrX:153664475-153664525	HIPEpiC	eye:	n/a
8	chrX:153664475-153664525	HEEpiC	esophagus:	n/a
9	chrX:153664475-153664525	HAEpiC	amniotic membrane:	n/a
10	chrX:153664475-153664525	HCF	heart:	n/a
11	chrX:153664475-153664525	IMR90	lung:	fetal
12	chrX:153664475-153664525	MCF-7	breast:	n/a
13	chrX:153664475-153664525	HMEC	breast:	n/a
14	chrX:153664475-153664525	BE2_C	brain:	n/a
15	chrX:153664475-153664525	AG09309	skin:	n/a
16	chrX:153664475-153664525	ovcar-3	ovarian:	n/a
17	chrX:153664475-153664525	AoSMC	blood vessel:	n/a
18	chrX:153664475-153664525	K562	blood:	n/a
19	chrX:153664475-153664525	GM19239	blood:	n/a
20	chrX:153664475-153664525	SK-N-SH	brain:	n/a
21	chrX:153664475-153664525	HCM	heart:	n/a
22	chrX:153664475-153664525	HRE	kidney:	n/a
23	chrX:153664475-153664525	SK-N-SH_RA	brain:	n/a
24	chrX:153664475-153664525	Hela-S3	cervix:	n/a
25	chrX:153664475-153664525	U87	brain:	n/a
26	chrX:153664475-153664525	Jurkat	blood:	n/a
27	chrX:153664475-153664525	HL-60	blood:	n/a
28	chrX:153664475-153664525	HUVEC	blood vessel:	n/a
29	chrX:153664475-153664525	SKMC	muscle:	n/a
30	chrX:153664475-153664525	BJ	skin:	n/a
31	chrX:153664475-153664525	ProgFib	skin:	n/a
32	chrX:153664475-153664525	PrEC	prostate:	n/a
33	chrX:153664475-153664525	LNCaP	prostate:	n/a
34	chrX:153664475-153664525	HCPEpiC	choroid plexus:	n/a
35	chrX:153664475-153664525	Hepatocyte	liver:	n/a
36	chrX:153664475-153664525	PFSK-1	brain:	n/a
37	chrX:153664475-153664525	GM06990	blood:	n/a
38	chrX:153664475-153664525	NT2-D1	testis:	n/a
39	chrX:153664475-153664525	HRCEpiC	kidney:	n/a
40	chrX:153664475-153664525	NH-A	brain:	n/a
41	chrX:153664475-153664525	SK-N-MC	brain:	n/a
42	chrX:153664475-153664525	AG10803	skin:	n/a
43	chrX:153664475-153664525	HepG2	liver:	n/a
44	chrX:153664475-153664525	HEK293	kidney:	embryo
45	chrX:153664475-153664525	HCT-116	colon:	n/a
46	chrX:153664475-153664525	CMK	blood:	n/a
47	chrX:153664475-153664525	AG04450	lung:	fetal
48	chrX:153664475-153664525	Caco-2	colon:	n/a
49	chrX:153664475-153664525	SAEC	small airway:	n/a
50	chrX:153664475-153664525	ECC-1	luminal epithelium:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:153601346..153604087-chrX:153662858..153664785,2	MCF-7	breast:
2	chrX:153596589..153600122-chrX:153663177..153666593,6	K562	blood:
3	chrX:153662094..153664647-chrX:153718535..153720101,2	MCF-7	breast:
4	chrX:153639669..153642525-chrX:153662814..153665264,2	K562	blood:
5	X:153657611-153671976..X:153681712-153701576	Hela-S3	cervix:
6	X:153214268-153230257..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
7	chrX:153636168..153639473-chrX:153663428..153667737,8	MCF-7	breast:
8	X:153625659-153635385..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
9	X:153187063-153190397..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
10	chrX:153663553..153666950-chrX:153742012..153745567,3	MCF-7	breast:
11	X:153657611-153671976..X:153967468-153979902	H1-hESC	embryonic stem cell:	embryo
12	X:153657611-153671976..X:153755323-153771683	Hela-S3	cervix:
13	chrX:153661960..153666485-chrX:153685751..153689252,6	K562	blood:
14	chrX:153595338..153600468-chrX:153664217..153668349,5	K562	blood:
15	chrX:153597446..153602147-chrX:153663095..153667390,6	MCF-7	breast:
16	X:153586280-153597086..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
17	X:153657611-153671976..X:154015910-154019964	Hela-S3	cervix:
18	chrX:153625525..153632382-chrX:153663983..153668753,13	K562	blood:
19	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
20	X:153657611-153671976..X:153736289-153755323	Hela-S3	cervix:
21	chrX:153664219..153666172-chrX:153706574..153708655,2	MCF-7	breast:
22	X:153198557-153214268..X:153657611-153671976	Hela-S3	cervix:
23	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
24	X:153574513-153584637..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
25	chrX:153625254..153633054-chrX:153663966..153667311,10	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GDI1-1	chrX:153664502-153664773	NONHSAT139174

No data

Variant related genes	Relation type
GDI1	TF binding region
GDI1	CpG island
ENSG00000013563	Chromatin interaction
ENSG00000102032	Chromatin interaction
ENSG00000102030	Chromatin interaction
ENSG00000160219	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000130830	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000089820	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000196976	Chromatin interaction
ENSG00000160211	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	esv3408138	chrX:153664208-153666531	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153656400-153665000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
2	chrX:153658000-153664600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chrX:153658200-153664800	Weak transcription	Rectal Smooth Muscle	rectum
4	chrX:153658200-153664800	Weak transcription	HMEC	breast
5	chrX:153658200-153665200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chrX:153658400-153664600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chrX:153658400-153664600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chrX:153658400-153664600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chrX:153658400-153664600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chrX:153658400-153664800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chrX:153658400-153664800	Weak transcription	Psoas Muscle	Psoas
12	chrX:153658400-153665600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chrX:153658600-153664600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chrX:153658600-153665000	ZNF genes & repeats	Fetal Stomach	stomach
15	chrX:153658800-153664600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chrX:153659200-153664800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chrX:153659200-153665000	ZNF genes & repeats	Fetal Brain Female	brain
18	chrX:153659400-153664800	Weak transcription	Fetal Kidney	kidney
19	chrX:153659400-153664800	Weak transcription	Right Atrium	heart
20	chrX:153659400-153665000	Weak transcription	Hela-S3	cervix
21	chrX:153659400-153665000	Weak transcription	HepG2	liver
22	chrX:153659600-153664600	Weak transcription	Brain Angular Gyrus	brain
23	chrX:153659600-153664600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chrX:153659600-153666000	Weak transcription	Stomach Mucosa	stomach
25	chrX:153659800-153664600	Weak transcription	GM12878-XiMat	blood
26	chrX:153659800-153664600	Weak transcription	HUVEC	blood vessel
27	chrX:153660000-153664600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chrX:153660000-153664600	Strong transcription	Fetal Intestine Small	intestine
29	chrX:153660200-153664600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chrX:153660200-153664600	Weak transcription	Primary B cells from cord blood	blood
31	chrX:153660200-153664600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chrX:153660200-153664600	Strong transcription	Spleen	Spleen
33	chrX:153660400-153679800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chrX:153660600-153664600	Strong transcription	Fetal Intestine Large	intestine
35	chrX:153660800-153664600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chrX:153661000-153664600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chrX:153661000-153664600	Strong transcription	Lung	lung
38	chrX:153661400-153664600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chrX:153662000-153664600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chrX:153662000-153665000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chrX:153662400-153664600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chrX:153662600-153664600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chrX:153662600-153664600	Weak transcription	Primary T cells from cord blood	blood
44	chrX:153662600-153664800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chrX:153662600-153664800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chrX:153662800-153664600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chrX:153662800-153664800	Weak transcription	Primary hematopoietic stem cells	blood
48	chrX:153662800-153664800	Weak transcription	HSMMtube	muscle
49	chrX:153662800-153665000	ZNF genes & repeats	NHEK	skin
50	chrX:153663000-153664600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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