Variant report

Variant	rs2271048
Chromosome Location	chr12:123335483-123335484
allele	A/G
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:1)
LncRNA
region (count:0)
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	MYC	chr12:123335399-123335487	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr12:123335460-123335610	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:123335459-123335631	K562	blood:	n/a	n/a
4	FOS	chr12:123335407-123335601	MCF10A-Er-Src	breast:	n/a	n/a
5	MXI1	chr12:123335330-123335745	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123335444-123335494	MCF-7	breast:	n/a
2	chr12:123335444-123335494	Hela-S3	cervix:	n/a
3	chr12:123335444-123335494	Hepatocyte	liver:	n/a
4	chr12:123335444-123335494	HCF	heart:	n/a
5	chr12:123335444-123335494	H1-hESC	embryonic stem cell:	embryo
6	chr12:123335444-123335494	A549	lung:	n/a
7	chr12:123335444-123335494	BE2_C	brain:	n/a
8	chr12:123335444-123335494	HCM	heart:	n/a
9	chr12:123335444-123335494	U87	brain:	n/a
10	chr12:123335444-123335494	GM06990	blood:	n/a
11	chr12:123335444-123335494	T-47D	breast:	n/a
12	chr12:123335444-123335494	HepG2	liver:	n/a
13	chr12:123335444-123335494	GM12892	blood:	n/a
14	chr12:123335444-123335494	PFSK-1	brain:	n/a
15	chr12:123335444-123335494	SKMC	muscle:	n/a
16	chr12:123335444-123335494	Jurkat	blood:	n/a
17	chr12:123335444-123335494	SK-N-SH	brain:	n/a
18	chr12:123335444-123335494	SAEC	small airway:	n/a
19	chr12:123335444-123335494	RPTEC	kidney:	n/a
20	chr12:123335444-123335494	PANC-1	pancreas:	n/a
21	chr12:123335444-123335494	HCT-116	colon:	n/a
22	chr12:123335444-123335494	HRPEpiC	eye:	n/a
23	chr12:123335444-123335494	Caco-2	colon:	n/a
24	chr12:123335444-123335494	HNPCEpiC	eye:	n/a
25	chr12:123335444-123335494	AG09319	gingival:	n/a
26	chr12:123335444-123335494	SK-N-MC	brain:	n/a
27	chr12:123335444-123335494	AG04449	skin:	fetal
28	chr12:123335444-123335494	NHDF-neo	bronchial:	n/a
29	chr12:123335444-123335494	HAEpiC	amniotic membrane:	n/a
30	chr12:123335444-123335494	NHBE	bronchial:	n/a
31	chr12:123335444-123335494	HIPEpiC	eye:	n/a
32	chr12:123335444-123335494	ProgFib	skin:	n/a
33	chr12:123335444-123335494	HL-60	blood:	n/a
34	chr12:123335444-123335494	MCF10A-Er-Src	breast:	n/a
35	chr12:123335444-123335494	AG09309	skin:	n/a
36	chr12:123335444-123335494	HCPEpiC	choroid plexus:	n/a
37	chr12:123335444-123335494	NT2-D1	testis:	n/a
38	chr12:123335444-123335494	GM12878	blood:	n/a
39	chr12:123335444-123335494	LNCaP	prostate:	n/a
40	chr12:123335444-123335494	GM19239	blood:	n/a
41	chr12:123335444-123335494	HEEpiC	esophagus:	n/a
42	chr12:123335444-123335494	SK-N-SH_RA	brain:	n/a
43	chr12:123335444-123335494	AG10803	skin:	n/a
44	chr12:123335444-123335494	ovcar-3	ovarian:	n/a
45	chr12:123335444-123335494	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:123335444-123335494	HUVEC	blood vessel:	n/a
47	chr12:123335444-123335494	AG04450	lung:	fetal
48	chr12:123335444-123335494	NB4	blood:	n/a
49	chr12:123335444-123335494	AoSMC	blood vessel:	n/a
50	chr12:123335444-123335494	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:

No data

Variant related genes	Relation type
HIP1R	TF binding region
HIP1R	CpG island
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1026395	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1037593	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10744394	0.88[EUR][1000 genomes]
rs10744439	0.96[EUR][1000 genomes]
rs10847910	1.00[EUR][1000 genomes]
rs11059729	0.83[AMR][1000 genomes]
rs11060211	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1671684	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1671686	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1696327	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2061099	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2343107	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2649904	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759351	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4759352	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4759353	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759354	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759384	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4759388	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7138257	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7298176	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306047	0.86[EUR][1000 genomes]
rs7306948	1.00[EUR][1000 genomes]
rs7485652	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7958155	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs839352	0.83[AMR][1000 genomes]
rs839357	0.83[AMR][1000 genomes]
rs897384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs897390	0.93[ASN][1000 genomes]
rs937765	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv560490	chr12:123326374-123346971	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv899575	chr12:123326374-123360151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	esv3441873	chr12:123333824-123336572	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3424840	chr12:123334149-123336322	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3323661	chr12:123334599-123335797	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3380344	chr12:123334845-123335599	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
2	chr12:123322800-123339600	Weak transcription	Dnd41	blood
3	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
10	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:123326600-123335600	Weak transcription	NHLF	lung
12	chr12:123326600-123336800	Weak transcription	Psoas Muscle	Psoas
13	chr12:123326600-123345000	Weak transcription	A549	lung
14	chr12:123327200-123337000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:123327200-123340000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:123327200-123344200	Weak transcription	Hela-S3	cervix
17	chr12:123327400-123336400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:123327600-123337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:123328200-123336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:123328400-123336200	Weak transcription	Placenta	Placenta
23	chr12:123329200-123335600	Weak transcription	Primary T cells from cord blood	blood
24	chr12:123329200-123337600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:123329400-123341800	Weak transcription	HepG2	liver
27	chr12:123329600-123336600	Strong transcription	Fetal Stomach	stomach
28	chr12:123329600-123344600	Strong transcription	Fetal Intestine Small	intestine
29	chr12:123330000-123340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:123330400-123344400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:123330400-123349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:123330800-123335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:123330800-123336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:123331000-123337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:123331000-123340800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:123331200-123336800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:123331400-123336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:123331600-123335600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:123332200-123336400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:123332200-123338600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:123332200-123341000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:123332200-123343200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:123332400-123336200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:123332400-123336400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:123332400-123336600	Strong transcription	Gastric	stomach
46	chr12:123332400-123337600	Strong transcription	Fetal Intestine Large	intestine
47	chr12:123332600-123336200	Strong transcription	Esophagus	oesophagus
48	chr12:123332600-123341200	Genic enhancers	Brain Cingulate Gyrus	brain
49	chr12:123332600-123344800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr12:123332600-123355600	Strong transcription	Thymus	Thymus

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