Variant report

Variant	rs11096636
Chromosome Location	chr2:20250037-20250038
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	ZKSCAN1	chr2:20250024-20250917	Hela-S3	cervix:	n/a	n/a
2	CUX1	chr2:20249981-20250753	GM12878	blood:	n/a	n/a
3	EGR1	chr2:20249901-20250310	K562	blood:	n/a	n/a
4	ZNF384	chr2:20249972-20250884	GM12878	blood:	n/a	chr2:20250363-20250371
5	SPI1	chr2:20249866-20250409	GM12891	blood:	n/a	chr2:20250133-20250146 chr2:20250135-20250142
6	MAX	chr2:20249847-20250275	K562	blood:	n/a	n/a
7	MYC	chr2:20249886-20250847	K562	blood:	n/a	n/a
8	TEAD4	chr2:20249801-20250730	K562	blood:	n/a	n/a
9	EP300	chr2:20249892-20250426	GM12878	blood:	n/a	chr2:20250130-20250144
10	MXI1	chr2:20249818-20253177	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr2:20249742-20250811	GM12878	blood:	n/a	n/a
12	ARID3A	chr2:20249705-20250722	K562	blood:	n/a	n/a
13	REST	chr2:20249044-20253112	H1-neurons	neurons:	n/a	chr2:20250974-20250987 chr2:20251116-20251129 chr2:20251113-20251126 chr2:20252708-20252728 chr2:20251846-20251859 chr2:20251871-20251880
14	RUNX3	chr2:20249950-20250640	GM12878	blood:	n/a	n/a
15	SPI1	chr2:20249939-20250281	HL-60	blood:	n/a	chr2:20250133-20250146 chr2:20250135-20250142
16	SPI1	chr2:20249661-20250599	GM12878	blood:	n/a	chr2:20250133-20250146 chr2:20250135-20250142 chr2:20249713-20249726
17	RCOR1	chr2:20249874-20250829	K562	blood:	n/a	n/a
18	PML	chr2:20249815-20250711	GM12878	blood:	n/a	n/a
19	EP300	chr2:20249634-20250746	GM12878	blood:	n/a	chr2:20250130-20250144 chr2:20249715-20249724 chr2:20249714-20249728
20	JUN	chr2:20249770-20250219	K562	blood:	n/a	n/a
21	PML	chr2:20249847-20250673	K562	blood:	n/a	n/a
22	POLR2A	chr2:20249887-20250313	K562	blood:	n/a	n/a
23	BHLHE40	chr2:20249966-20250704	K562	blood:	n/a	n/a
24	POLR2A	chr2:20249842-20250284	GM12892	blood:	n/a	n/a
25	SPI1	chr2:20249955-20250304	K562	blood:	n/a	chr2:20250133-20250146 chr2:20250135-20250142
26	POLR2A	chr2:20250011-20250384	K562	blood:	n/a	n/a
27	CHD2	chr2:20249877-20250838	GM12878	blood:	n/a	n/a
28	RAD21	chr2:20250030-20250827	IMR90	lung:	n/a	n/a
29	SPI1	chr2:20249936-20250279	GM12878	blood:	n/a	chr2:20250133-20250146 chr2:20250135-20250142
30	MXI1	chr2:20250026-20250343	K562	blood:	n/a	n/a
31	STAT3	chr2:20249652-20250549	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:20249848-20250744	K562	blood:	n/a	n/a
33	GATA1	chr2:20249823-20250808	PBDE	blood:	n/a	chr2:20250794-20250804
34	CHD1	chr2:20247605-20252898	IMR90	lung:	n/a	n/a
35	POLR2A	chr2:20249811-20250800	GM12892	blood:	n/a	n/a
36	FOS	chr2:20249556-20250224	MCF10A-Er-Src	breast:	n/a	chr2:20249717-20249726
37	GATA2	chr2:20249920-20250316	K562	blood:	n/a	n/a
38	POLR2A	chr2:20250023-20250288	K562	blood:	n/a	n/a
39	MAX	chr2:20249954-20250344	GM12878	blood:	n/a	n/a
40	MAFK	chr2:20249750-20250280	IMR90	lung:	n/a	chr2:20249971-20249981
41	JUND	chr2:20249898-20250885	K562	blood:	n/a	n/a
42	RUNX3	chr2:20249878-20250803	GM12878	blood:	n/a	n/a
43	RCOR1	chr2:20249934-20250686	K562	blood:	n/a	n/a
44	FOS	chr2:20249450-20250372	HUVEC	blood vessel:	n/a	chr2:20249717-20249726
45	POLR2A	chr2:20249848-20252962	H1-hESC	embryonic stem cell:	n/a	n/a
46	REST	chr2:20250008-20250262	Hela-S3	cervix:	n/a	n/a
47	EGR1	chr2:20249864-20250302	K562	blood:	n/a	n/a
48	CREB1	chr2:20249909-20250506	GM12878	blood:	n/a	n/a
49	ZNF263	chr2:20249503-20252187	HEK293-T-REx	kidney:	n/a	chr2:20250545-20250554
50	PML	chr2:20249864-20250689	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20248476..20251356-chr2:20368246..20369984,2	MCF-7	breast:
2	chr2:20249888..20254017-chr2:20419396..20423263,3	MCF-7	breast:
3	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
4	chr2:20098680..20101528-chr2:20249865..20251716,2	K562	blood:
5	chr2:20188631..20191521-chr2:20249258..20251143,2	MCF-7	breast:
6	chr2:20100300..20103104-chr2:20249714..20251596,2	MCF-7	breast:
7	chr2:20100261..20103746-chr2:20249026..20255152,7	K562	blood:
8	chr2:20248673..20250285-chr2:20331318..20334095,2	K562	blood:
9	chr2:20236074..20238598-chr2:20248598..20251526,3	K562	blood:
10	chr2:20249442..20251362-chr2:20288263..20290257,2	K562	blood:
11	chr2:20223805..20226638-chr2:20247959..20250550,2	MCF-7	breast:
12	chr2:20249637..20253449-chr2:20421472..20424385,3	MCF-7	breast:
13	chr2:20155348..20158077-chr2:20248430..20251683,3	MCF-7	breast:
14	chr2:20249233..20252415-chr2:20424056..20425890,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223734	TF binding region
ENSG00000183891	Chromatin interaction
ENSG00000115884	Chromatin interaction
ENSG00000132031	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000118965	Chromatin interaction
ENSG00000227210	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10201596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406536	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16987337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16987357	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs16987368	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs16987372	1.00[CEU][hapmap]
rs2881878	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs3731672	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56154480	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56887453	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73222147	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20241600-20250400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:20247400-20252600	Active TSS	Ovary	ovary
3	chr2:20247600-20250200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:20247800-20250200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr2:20248000-20250200	Flanking Active TSS	NHEK	skin
6	chr2:20248000-20250400	Flanking Active TSS	HUVEC	blood vessel
7	chr2:20248000-20250600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr2:20248200-20250200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:20248200-20250200	Enhancers	Small Intestine	intestine
10	chr2:20248200-20250600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr2:20248400-20250200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:20248400-20250400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr2:20248400-20250400	Flanking Active TSS	Dnd41	blood
14	chr2:20248400-20252800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:20248400-20252800	Active TSS	Aorta	Aorta
16	chr2:20248600-20251200	Active TSS	Right Atrium	heart
17	chr2:20248600-20252800	Active TSS	Fetal Muscle Leg	muscle
18	chr2:20248600-20252800	Active TSS	Psoas Muscle	Psoas
19	chr2:20248600-20252800	Active TSS	Right Ventricle	heart
20	chr2:20248800-20250200	Flanking Active TSS	Hela-S3	cervix
21	chr2:20248800-20252400	Active TSS	Fetal Intestine Large	intestine
22	chr2:20248800-20252400	Active TSS	Stomach Smooth Muscle	stomach
23	chr2:20248800-20252800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:20248800-20252800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:20248800-20252800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:20248800-20253000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:20249000-20250200	Flanking Active TSS	A549	lung
28	chr2:20249000-20250600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr2:20249000-20250800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:20249000-20252200	Active TSS	Fetal Thymus	thymus
31	chr2:20249000-20252200	Active TSS	GM12878-XiMat	blood
32	chr2:20249000-20252400	Active TSS	Colon Smooth Muscle	Colon
33	chr2:20249000-20252400	Active TSS	Fetal Lung	lung
34	chr2:20249000-20252400	Active TSS	HSMM	muscle
35	chr2:20249000-20252600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr2:20249000-20252600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:20249000-20252800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr2:20249000-20252800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr2:20249000-20252800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:20249000-20252800	Active TSS	Fetal Kidney	kidney
41	chr2:20249000-20252800	Active TSS	NHDF-Ad	bronchial
42	chr2:20249000-20252800	Active TSS	NHLF	lung
43	chr2:20249000-20253200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:20249200-20250200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr2:20249200-20250200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr2:20249200-20250400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr2:20249200-20250600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr2:20249200-20251000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr2:20249200-20252200	Active TSS	Fetal Stomach	stomach
50	chr2:20249200-20252600	Active TSS	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links