Variant report

Variant	rs11572910
Chromosome Location	chr12:124117768-124117769
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:124117767-124118727	MCF-7	breast:	n/a	n/a
2	GABPA	chr12:124117637-124118716	SK-N-SH	brain:	n/a	n/a
3	REST	chr12:124117636-124118916	H1-neurons	neurons:	n/a	chr12:124118008-124118021 chr12:124118392-124118405
4	POLR2A	chr12:124117748-124119054	HUVEC	blood vessel:	n/a	n/a
5	REST	chr12:124117511-124118864	A549	lung:	n/a	chr12:124118008-124118021 chr12:124118392-124118405
6	POLR2A	chr12:124117741-124118816	PBDE	blood:	n/a	n/a
7	MAX	chr12:124117760-124119042	K562	blood:	n/a	n/a
8	MXI1	chr12:124117689-124118608	Hela-S3	cervix:	n/a	n/a
9	ELF1	chr12:124117748-124118774	HCT-116	colon:	n/a	chr12:124118221-124118234
10	ZNF384	chr12:124117495-124117934	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:124117702-124120166	PFSK-1	brain:	n/a	n/a
12	MAX	chr12:124117603-124119321	HCT-116	colon:	n/a	n/a
13	ZNF384	chr12:124117396-124117799	K562	blood:	n/a	n/a
14	MXI1	chr12:124117527-124119605	IMR90	lung:	n/a	n/a
15	MYC	chr12:124117651-124119266	K562	blood:	n/a	n/a
16	CREB1	chr12:124117708-124119446	GM12878	blood:	n/a	n/a
17	BCL3	chr12:124117744-124118749	A549	lung:	n/a	n/a
18	SREBP2	chr12:124117417-124119412	GM12878	blood:	n/a	n/a
19	ELF1	chr12:124117510-124118871	HCT-116	colon:	n/a	chr12:124118221-124118234
20	JUN	chr12:124117498-124118803	K562	blood:	n/a	n/a
21	POLR2A	chr12:124117595-124119732	MCF10A-Er-Src	breast:	n/a	n/a
22	SIN3A	chr12:124117711-124118797	H1-hESC	embryonic stem cell:	n/a	chr12:124118303-124118311 chr12:124118428-124118439
23	PML	chr12:124117527-124118967	K562	blood:	n/a	n/a
24	GABPA	chr12:124117685-124118807	MCF-7	breast:	n/a	n/a
25	IRF1	chr12:124117746-124119266	K562	blood:	n/a	n/a
26	PML	chr12:124117540-124119437	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:124117744-124119687	K562	blood:	n/a	n/a
28	MTA3	chr12:124117616-124119530	GM12878	blood:	n/a	n/a
29	NR2F2	chr12:124117588-124119191	K562	blood:	n/a	n/a
30	IRF1	chr12:124117728-124118646	K562	blood:	n/a	n/a
31	POLR2A	chr12:124117567-124119816	MCF10A-Er-Src	breast:	n/a	n/a
32	ELF1	chr12:124117659-124118774	MCF-7	breast:	n/a	chr12:124118221-124118234
33	MXI1	chr12:124117739-124118628	K562	blood:	n/a	n/a
34	GABPA	chr12:124117442-124119088	A549	lung:	n/a	n/a
35	HCFC1	chr12:124117557-124119744	Hela-S3	cervix:	n/a	n/a
36	BHLHE40	chr12:124117548-124118596	K562	blood:	n/a	n/a
37	POLR2A	chr12:124117751-124119836	GM12892	blood:	n/a	n/a
38	SRF	chr12:124117726-124118808	HCT-116	colon:	n/a	n/a
39	SIN3AK20	chr12:124117686-124118878	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:124117744-124119013	K562	blood:	n/a	n/a
41	POLR2A	chr12:124117720-124118973	H1-hESC	embryonic stem cell:	n/a	n/a
42	SRF	chr12:124117629-124118927	HCT-116	colon:	n/a	n/a
43	GABPA	chr12:124117643-124118798	HL-60	blood:	n/a	n/a
44	POLR2A	chr12:124117733-124119317	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr12:124117681-124120549	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr12:124117753-124118680	A549	lung:	n/a	n/a
47	MXI1	chr12:124117645-124118852	GM12878	blood:	n/a	n/a
48	MAZ	chr12:124117688-124119005	IMR90	lung:	n/a	n/a
49	MYBL2	chr12:124117721-124118703	HepG2	liver:	n/a	n/a
50	MXI1	chr12:124117405-124119471	SK-N-SH	brain:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124116825..124119400-chr12:124154444..124157055,3	MCF-7	breast:
2	chr12:124085449..124088387-chr12:124115552..124120028,6	MCF-7	breast:
3	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
4	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
5	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
6	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
7	chr12:124068831..124072178-chr12:124116882..124120107,5	K562	blood:
8	chr12:124017816..124019657-chr12:124117596..124119161,2	MCF-7	breast:
9	chr12:124067567..124070616-chr12:124116717..124118360,3	K562	blood:
10	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
11	chr12:124117557..124118523-chr17:78120518..78121066,2	Hela-S3	cervix:
12	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
13	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
14	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:
15	chr12:124085496..124088026-chr12:124116630..124119648,4	MCF-7	breast:
16	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:
17	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
18	chr12:124086664..124088557-chr12:124117448..124120033,4	K562	blood:

No data

Variant related genes	Relation type
EIF2B1	TF binding region
GTF2H3	TF binding region
ENSG00000168778	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000141543	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000256092	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11572918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11612927	0.91[YRI][hapmap]
rs12809853	0.85[YRI][hapmap]
rs12816883	0.90[AFR][1000 genomes]
rs2271659	1.00[JPT][hapmap]
rs4930737	0.82[LWK][hapmap]
rs7135542	0.94[YRI][hapmap]
rs7306528	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7313207	0.81[YRI][hapmap]
rs7980060	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS 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	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124114000-124117800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124116000-124117800	Weak transcription	Aorta	Aorta
3	chr12:124116000-124117800	Weak transcription	Pancreas	Pancrea
4	chr12:124116000-124117800	Weak transcription	Spleen	Spleen
5	chr12:124116200-124117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:124116600-124117800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:124116600-124117800	Weak transcription	Lung	lung
8	chr12:124116800-124117800	Flanking Active TSS	Dnd41	blood
9	chr12:124116800-124119200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:124116800-124119200	Active TSS	K562	blood
11	chr12:124117000-124118000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:124117000-124119000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:124117000-124119000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:124117200-124117800	Active TSS	HepG2	liver
15	chr12:124117200-124119000	Active TSS	Hela-S3	cervix
16	chr12:124117200-124119000	Active TSS	HMEC	breast
17	chr12:124117200-124119200	Active TSS	A549	lung
18	chr12:124117200-124119200	Active TSS	GM12878-XiMat	blood
19	chr12:124117400-124117800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:124117400-124117800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:124117400-124117800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr12:124117400-124117800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:124117400-124117800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:124117400-124117800	Flanking Active TSS	Fetal Lung	lung
25	chr12:124117400-124117800	Flanking Active TSS	Fetal Stomach	stomach
26	chr12:124117400-124117800	Flanking Active TSS	NHEK	skin
27	chr12:124117400-124118000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr12:124117400-124118000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr12:124117400-124118000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr12:124117400-124118000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:124117400-124118000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:124117400-124118000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr12:124117400-124118000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:124117400-124118000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:124117400-124118000	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr12:124117400-124118000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:124117400-124118000	Flanking Active TSS	HUVEC	blood vessel
38	chr12:124117400-124118000	Flanking Active TSS	Osteobl	bone
39	chr12:124117400-124118200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr12:124117400-124118400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr12:124117400-124118800	Active TSS	Duodenum Mucosa	Duodenum
42	chr12:124117400-124118800	Active TSS	Fetal Muscle Trunk	muscle
43	chr12:124117400-124118800	Active TSS	Fetal Muscle Leg	muscle
44	chr12:124117400-124118800	Active TSS	Placenta	Placenta
45	chr12:124117400-124118800	Active TSS	Psoas Muscle	Psoas
46	chr12:124117400-124118800	Active TSS	Right Ventricle	heart
47	chr12:124117400-124118800	Active TSS	NHLF	lung
48	chr12:124117400-124119000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:124117400-124119000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr12:124117400-124119000	Active TSS	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links