Variant report

Variant	rs11673983
Chromosome Location	chr2:86041824-86041825
allele	C/T
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	SMC3	chr2:86040730-86042327	SK-N-SH	brain:	n/a	chr2:86041505-86041519 chr2:86041037-86041047
2	CTCF	chr2:86041803-86041853	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr2:86041192-86041829	MCF-7	breast:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
4	RAD21	chr2:86041150-86041864	MCF-7	breast:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
5	RAD21	chr2:86041058-86041949	IMR90	lung:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
6	CHD1	chr2:86041185-86041873	IMR90	lung:	n/a	n/a
7	TCF12	chr2:86040998-86041871	A549	lung:	n/a	chr2:86041563-86041570 chr2:86041101-86041109
8	CTCF	chr2:86041038-86041943	HCT-116	colon:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041049-86041062 chr2:86041038-86041048 chr2:86041503-86041521 chr2:86041505-86041518
9	ZNF263	chr2:86041217-86042093	HEK293-T-REx	kidney:	n/a	chr2:86041536-86041557
10	RAD21	chr2:86041061-86041951	HCT-116	colon:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
11	MAZ	chr2:86040816-86041870	IMR90	lung:	n/a	n/a
12	RAD21	chr2:86041080-86041950	HCT-116	colon:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
13	CTCF	chr2:86041729-86041866	GM10266	blood:	n/a	n/a
14	RAD21	chr2:86040628-86042158	SK-N-SH	brain:	n/a	chr2:86041503-86041515 chr2:86041037-86041047 chr2:86041501-86041520
15	CTCF	chr2:86041124-86041868	HCT-116	colon:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
16	CTCF	chr2:86041800-86041950	NB4	blood:	n/a	n/a
17	CTCF	chr2:86040813-86042409	A549	lung:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041049-86041062 chr2:86041038-86041048 chr2:86041503-86041521 chr2:86041505-86041518
18	RAD21	chr2:86041010-86042008	A549	lung:	n/a	chr2:86041503-86041515 chr2:86041037-86041047 chr2:86041501-86041520
19	CTCF	chr2:86041100-86042120	SK-N-SH	brain:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518

No.	Distal block	Cell Line	Cell type
1	chr2:86041294..86041978-chr2:86054251..86055110,2	K562	blood:
2	chr2:85955821..85957008-chr2:86041027..86041954,12	MCF-7	breast:
3	chr2:85977304..85978300-chr2:86041004..86041953,11	MCF-7	breast:
4	chr2:85977766..85978267-chr2:86041056..86041985,2	K562	blood:
5	chr2:85906761..85907337-chr2:86041197..86041830,2	K562	blood:
6	chr2:85933286..85934066-chr2:86041050..86041981,2	K562	blood:
7	chr2:85955246..85956833-chr2:86040551..86042336,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229498	TF binding region
ENSG00000199687	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10445963	0.80[YRI][hapmap]
rs11673740	0.89[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11674128	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11675032	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11676743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679628	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679814	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679818	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680472	0.80[EUR][1000 genomes]
rs11681094	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11682180	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11682653	0.95[EUR][1000 genomes]
rs11683378	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11684014	0.88[CEU][hapmap]
rs11688602	0.89[CEU][hapmap];0.88[ASN][1000 genomes]
rs11690193	0.89[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11690888	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11691942	1.00[CEU][hapmap]
rs11692513	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899219	0.89[CEU][hapmap]
rs13391970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399063	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57085204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57482155	0.99[ASN][1000 genomes]
rs57648087	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58383548	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58666667	0.96[ASN][1000 genomes]
rs58829348	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59797249	0.99[ASN][1000 genomes]
rs7563145	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86024600-86043600	Weak transcription	Right Ventricle	heart
2	chr2:86029800-86054400	Weak transcription	Spleen	Spleen
3	chr2:86037600-86042600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:86039000-86042400	Weak transcription	Left Ventricle	heart
5	chr2:86039800-86042000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:86039800-86074800	Weak transcription	Aorta	Aorta
7	chr2:86040800-86042000	Enhancers	Brain Hippocampus Middle	brain
8	chr2:86040800-86042400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:86040800-86042600	Enhancers	A549	lung
10	chr2:86041000-86042200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:86041000-86042200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:86041000-86042600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr2:86041000-86042600	Enhancers	Pancreas	Pancrea
14	chr2:86041200-86042000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:86041200-86042200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:86041200-86042400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:86041400-86045200	Weak transcription	Ovary	ovary
18	chr2:86041400-86049600	Weak transcription	Lung	lung
19	chr2:86041800-86042200	Weak transcription	Brain Anterior Caudate	brain

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