Variant report

Variant	rs2275237
Chromosome Location	chr1:150785811-150785812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:150785622-150785927	K562	blood:	n/a	n/a
2	CTCF	chr1:150785680-150785830	Hela-S3	cervix:	n/a	n/a
3	FOXA1	chr1:150785552-150785998	T-47D	breast:	n/a	n/a
4	CTCF	chr1:150785680-150785830	WI-38	lung:	n/a	n/a
5	RAD21	chr1:150785540-150785888	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:150785700-150785850	GM12801	blood:	n/a	n/a
7	RAD21	chr1:150785394-150786039	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr1:150785291-150785972	IMR90	lung:	n/a	n/a
9	CTCF	chr1:150785720-150785870	HFF-Myc	foreskin:	n/a	n/a
10	FOS	chr1:150785637-150785835	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr1:150785647-150785890	Spleen_OC	spleen:	n/a	n/a
12	RAD21	chr1:150785575-150785861	K562	blood:	n/a	n/a
13	CTCF	chr1:150785720-150785870	HepG2	liver:	n/a	n/a
14	RAD21	chr1:150785372-150786057	A549	lung:	n/a	n/a
15	CTCF	chr1:150785606-150785913	A549	lung:	n/a	n/a
16	CTCF	chr1:150785680-150785830	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr1:150785700-150785850	BE2_C	brain:	n/a	n/a
18	CTCF	chr1:150785622-150785894	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:150785720-150785870	Hela-S3	cervix:	n/a	n/a
20	MAFK	chr1:150785609-150785903	K562	blood:	n/a	n/a
21	SMC3	chr1:150785561-150785959	K562	blood:	n/a	n/a
22	RAD21	chr1:150785499-150786004	ECC-1	luminal epithelium:	n/a	n/a
23	CTCF	chr1:150785700-150785850	HVMF	connective:	n/a	n/a
24	CTCF	chr1:150785422-150785998	MCF-7	breast:	n/a	n/a
25	CTCF	chr1:150785648-150785883	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:150785383-150786109	HCT-116	colon:	n/a	n/a
27	CTCF	chr1:150785623-150785929	K562	blood:	n/a	n/a
28	CTCF	chr1:150785720-150785870	GM12873	blood:	n/a	n/a
29	CTCF	chr1:150785680-150785830	GM12870	blood:	n/a	n/a
30	MYC	chr1:150785611-150785840	NB4	blood:	n/a	n/a
31	RAD21	chr1:150785601-150785855	GM12878	blood:	n/a	n/a
32	CTCF	chr1:150785720-150785870	GM12865	blood:	n/a	n/a
33	RAD21	chr1:150785412-150786077	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:150785720-150785870	HMEC	breast:	n/a	n/a
35	CTCF	chr1:150785720-150785870	NHEK	skin:	n/a	n/a
36	POLR2A	chr1:150785659-150785859	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr1:150785700-150785850	HepG2	liver:	n/a	n/a
38	RAD21	chr1:150785546-150785871	K562	blood:	n/a	n/a
39	ZNF143	chr1:150785618-150785948	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:150785740-150785890	HCT-116	colon:	n/a	n/a
41	CTCF	chr1:150785740-150785890	WI-38	lung:	n/a	n/a
42	CTCF	chr1:150785720-150785870	BJ	skin:	n/a	n/a
43	RCOR1	chr1:150785599-150785883	K562	blood:	n/a	n/a
44	CTCF	chr1:150785630-150785887	MCF-7	breast:	n/a	n/a
45	ZNF143	chr1:150785618-150785896	GM12878	blood:	n/a	n/a
46	CTCF	chr1:150785636-150785896	ProgFib	skin:	n/a	n/a
47	ZNF143	chr1:150785621-150785928	K562	blood:	n/a	n/a
48	CTCF	chr1:150785700-150785850	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr1:150785404-150786122	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr1:150785700-150785850	GM12866	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150538740..150540797-chr1:150784272..150785983,2	MCF-7	breast:
2	chr1:150532562..150533111-chr1:150785303..150786050,2	MCF-7	breast:
3	chr1:150550426..150552359-chr1:150785610..150789092,4	MCF-7	breast:
4	chr1:150549831..150551357-chr1:150785295..150788227,2	K562	blood:
5	chr1:150592213..150593153-chr1:150785716..150786261,2	MCF-7	breast:
6	chr1:150779291..150781180-chr1:150784227..150787241,3	K562	blood:
7	chr1:150596818..150598421-chr1:150785582..150787541,2	MCF-7	breast:
8	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
9	chr1:150532201..150534489-chr1:150785312..150786523,9	MCF-7	breast:
10	chr1:150591793..150592987-chr1:150785287..150786357,6	MCF-7	breast:
11	chr1:150541068..150543628-chr1:150783525..150786883,3	MCF-7	breast:
12	chr1:150532562..150534958-chr1:150785316..150786224,7	K562	blood:
13	chr1:150487610..150488250-chr1:150785292..150785817,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-1309P	TF binding region
ENSG00000228126	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000264584	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000143387	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10305740	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs10305742	1.00[CHD][hapmap];1.00[TSI][hapmap]
rs11807967	1.00[CHD][hapmap]
rs12077457	1.00[TSI][hapmap]
rs12124031	1.00[CHD][hapmap]
rs16832595	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16832602	1.00[CHB][hapmap]
rs2229175	1.00[CHD][hapmap]
rs6587519	1.00[CHD][hapmap]

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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv2788	chr1:150755334-150800785	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr1:150765400-150793600	Weak transcription	Fetal Heart	heart
2	chr1:150779200-150790600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:150780600-150788600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:150780800-150788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:150781400-150788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:150781600-150787000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:150782200-150787600	Strong transcription	Left Ventricle	heart
8	chr1:150782200-150791200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:150782200-150791400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:150782200-150795800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:150782200-150809600	Strong transcription	Fetal Muscle Leg	muscle
12	chr1:150782200-150809800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr1:150782200-150813000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:150782400-150786800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:150782400-150789800	Strong transcription	Lung	lung
16	chr1:150782400-150812200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:150782600-150787600	Strong transcription	Primary B cells from cord blood	blood
18	chr1:150782600-150796600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:150782600-150802800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:150782800-150788400	Weak transcription	HMEC	breast
21	chr1:150782800-150792800	Strong transcription	Placenta	Placenta
22	chr1:150782800-150795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:150783000-150786800	Strong transcription	Primary T cells from cord blood	blood
24	chr1:150783000-150787000	Strong transcription	Brain Cingulate Gyrus	brain
25	chr1:150783000-150787200	Strong transcription	Brain Germinal Matrix	brain
26	chr1:150783000-150787600	Strong transcription	Brain Anterior Caudate	brain
27	chr1:150783000-150787800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:150783000-150790600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:150783000-150792600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:150783000-150795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:150783000-150797000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:150783200-150786000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:150783200-150786600	Strong transcription	Small Intestine	intestine
34	chr1:150783200-150786800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr1:150783200-150786800	Strong transcription	HUVEC	blood vessel
36	chr1:150783200-150787000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:150783200-150787000	Strong transcription	Brain Hippocampus Middle	brain
38	chr1:150783200-150787000	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr1:150783200-150787000	Strong transcription	GM12878-XiMat	blood
40	chr1:150783200-150787200	Strong transcription	Brain Angular Gyrus	brain
41	chr1:150783200-150787400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:150783200-150787600	Strong transcription	Dnd41	blood
43	chr1:150783200-150787800	Strong transcription	Fetal Brain Female	brain
44	chr1:150783200-150790600	Strong transcription	Thymus	Thymus
45	chr1:150783200-150790800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:150783200-150790800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:150783200-150790800	Strong transcription	Spleen	Spleen
48	chr1:150783200-150791200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:150783200-150792000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:150783200-150794000	Strong transcription	HSMM	muscle

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