Variant report

Variant	rs1795550
Chromosome Location	chr12:11695864-11695865
allele	A/C
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	REST	chr12:11695566-11695874	PFSK-1	brain:	n/a	chr12:11695739-11695748
2	REST	chr12:11695570-11695880	Hela-S3	cervix:	n/a	chr12:11695739-11695748
3	REST	chr12:11695535-11695931	H1-hESC	embryonic stem cell:	n/a	chr12:11695739-11695748
4	REST	chr12:11695422-11696053	HL-60	blood:	n/a	chr12:11695739-11695748
5	REST	chr12:11695448-11695927	GM12878	blood:	n/a	chr12:11695739-11695748
6	REST	chr12:11695516-11695874	Hela-S3	cervix:	n/a	chr12:11695739-11695748
7	ZNF384	chr12:11695706-11695925	GM12878	blood:	n/a	n/a
8	REST	chr12:11695539-11695961	HL-60	blood:	n/a	chr12:11695739-11695748
9	REST	chr12:11695537-11695978	ECC-1	luminal epithelium:	n/a	chr12:11695739-11695748
10	REST	chr12:11695521-11695926	K562	blood:	n/a	chr12:11695739-11695748
11	REST	chr12:11695527-11695913	H1-hESC	embryonic stem cell:	n/a	chr12:11695739-11695748
12	REST	chr12:11695512-11695896	ECC-1	luminal epithelium:	n/a	chr12:11695739-11695748

Variant related genes	Relation type
ENSG00000221128	TF binding region
RNU7-60P	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10491978	0.92[ASN][1000 genomes]
rs4763704	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3356823	chr12:11691685-11695883	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11692400-11698200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr12:11692800-11698200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:11692800-11698400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:11693000-11696200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:11693000-11698200	Enhancers	Primary T cells from cord blood	blood
6	chr12:11693400-11696800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:11693600-11698400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:11693800-11697200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:11693800-11698400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:11694000-11696800	Weak transcription	Lung	lung
11	chr12:11694000-11698400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:11694000-11698400	Weak transcription	Fetal Lung	lung
13	chr12:11694000-11698400	Weak transcription	Spleen	Spleen
14	chr12:11694000-11698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:11694200-11696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:11694200-11696400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:11694200-11696400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:11694400-11697200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:11694600-11696800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:11694800-11696200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:11694800-11696400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:11694800-11696800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:11695600-11696800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:11695600-11697200	Enhancers	Colon Smooth Muscle	Colon
25	chr12:11695800-11696200	Weak transcription	Fetal Thymus	thymus
26	chr12:11695800-11696800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:11695800-11696800	Weak transcription	GM12878-XiMat	blood
28	chr12:11695800-11697000	Enhancers	Fetal Brain Male	brain
29	chr12:11695800-11697400	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:11695800-11697400	Enhancers	Dnd41	blood
31	chr12:11695800-11697600	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:11695800-11698400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:11695800-11698600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:11695800-11700000	Enhancers	Fetal Stomach	stomach

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