Variant report

Variant	rs2712801
Chromosome Location	chr11:74855229-74855230
allele	A/G
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	RUNX3	chr11:74855024-74855321	GM12878	blood:	n/a	n/a
2	CTCF	chr11:74855200-74855350	NHDF-neo	bronchial:	n/a	n/a
3	NFYB	chr11:74855150-74855356	GM12878	blood:	n/a	n/a
4	REST	chr11:74855126-74855891	PFSK-1	brain:	n/a	n/a
5	CTCF	chr11:74855180-74855330	K562	blood:	n/a	n/a
6	PAX5	chr11:74855082-74855382	GM12878	blood:	n/a	n/a
7	JUN	chr11:74855173-74855902	K562	blood:	n/a	n/a
8	CTCF	chr11:74855160-74855310	RPTEC	kidney:	n/a	n/a
9	CTCF	chr11:74855100-74855250	HBMEC	blood vessel:	n/a	n/a
10	RAD21	chr11:74855215-74855962	SK-N-SH	brain:	n/a	chr11:74855669-74855681 chr11:74855667-74855680 chr11:74855664-74855683 chr11:74855662-74855675 chr11:74855669-74855679
11	CTCF	chr11:74855120-74855270	GM12878	blood:	n/a	n/a
12	CTCF	chr11:74855120-74855270	GM12872	blood:	n/a	n/a
13	CTCF	chr11:74855094-74856050	A549	lung:	n/a	chr11:74855663-74855676 chr11:74855665-74855686 chr11:74855666-74855679 chr11:74855666-74855675 chr11:74855663-74855681
14	CTCF	chr11:74855200-74855350	AG04449	skin:	n/a	n/a
15	CTCF	chr11:74855200-74855350	GM12866	blood:	n/a	n/a
16	CTCF	chr11:74855061-74855984	SK-N-SH	brain:	n/a	chr11:74855663-74855676 chr11:74855665-74855686 chr11:74855666-74855679 chr11:74855666-74855675 chr11:74855663-74855681
17	SMC3	chr11:74855085-74856003	SK-N-SH	brain:	n/a	chr11:74855665-74855679 chr11:74855669-74855679
18	BATF	chr11:74855108-74855293	GM12878	blood:	n/a	n/a
19	CTCF	chr11:74855164-74856035	HCT-116	colon:	n/a	chr11:74855663-74855676 chr11:74855665-74855686 chr11:74855666-74855679 chr11:74855666-74855675 chr11:74855663-74855681
20	CTCF	chr11:74855200-74855350	GM06990	blood:	n/a	n/a
21	PAX5	chr11:74855098-74855339	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74854818..74856886-chr11:74915338..74916882,2	K562	blood:
2	chr11:74854624..74857110-chr11:74957836..74960008,2	MCF-7	breast:
3	chr11:74854253..74855928-chr11:74871794..74874336,2	MCF-7	breast:
4	chr11:74855150..74856132-chr11:74959390..74959986,7	MCF-7	breast:
5	chr11:74733638..74734226-chr11:74855146..74856092,2	MCF-7	breast:
6	chr11:74640885..74641508-chr11:74855166..74855698,2	MCF-7	breast:
7	chr11:74855198..74856149-chr11:74915693..74916307,4	K562	blood:
8	chr11:74855197..74856154-chr11:74959314..74960283,5	K562	blood:
9	chr11:74853112..74855934-chr11:74951491..74955339,4	K562	blood:
10	chr11:74855150..74856113-chr11:74915822..74916648,7	MCF-7	breast:
11	chr11:74853654..74855652-chr11:74858777..74860606,2	K562	blood:
12	chr11:74855227..74856388-chr11:74952126..74953604,10	MCF-7	breast:
13	chr11:74733565..74734291-chr11:74855193..74856678,6	K562	blood:
14	chr11:74854240..74856798-chr11:74915145..74916958,23	MCF-7	breast:
15	chr11:74853916..74856659-chr11:74959240..74960360,18	MCF-7	breast:
16	chr11:74854992..74856118-chr11:74916966..74917952,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255395	TF binding region
ENSG00000261594	Chromatin interaction
ENSG00000255136	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10899075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1944615	0.81[ASN][1000 genomes]
rs1944616	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2018251	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2156656	0.85[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2465290	0.89[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2712786	0.86[JPT][hapmap]
rs2712788	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2712793	0.90[ASN][1000 genomes]
rs2712795	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712797	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2712799	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712800	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712802	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712806	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2712808	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712809	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712811	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712814	0.82[ASN][1000 genomes]
rs2712815	0.85[ASN][1000 genomes]
rs2712816	0.89[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2712817	0.88[ASN][1000 genomes]
rs2712818	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2851065	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851067	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851068	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851069	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851070	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851071	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851072	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851075	0.89[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2851078	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2851079	0.92[JPT][hapmap]
rs2851080	0.83[JPT][hapmap]
rs2851081	0.86[JPT][hapmap]
rs2851082	0.86[JPT][hapmap]
rs2851084	0.92[JPT][hapmap]
rs2851086	0.86[JPT][hapmap]
rs2851093	0.93[ASN][1000 genomes]
rs2851095	0.92[ASN][1000 genomes]
rs2851097	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851103	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2851104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2851105	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851109	0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2851112	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4435030	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4944067	0.84[JPT][hapmap]
rs870505	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs870506	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs875482	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74851400-74855600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr11:74851600-74855800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr11:74852000-74861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:74852400-74856000	Enhancers	K562	blood
5	chr11:74852400-74858200	Weak transcription	Esophagus	oesophagus
6	chr11:74852400-74861000	Weak transcription	Stomach Mucosa	stomach
7	chr11:74853000-74855600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:74853200-74855600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:74853200-74855800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:74853400-74855600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:74853600-74855400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:74853600-74855400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:74853600-74855800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:74853600-74855800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:74853600-74855800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:74853600-74855800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:74853600-74855800	Enhancers	Fetal Muscle Leg	muscle
18	chr11:74853800-74855400	Enhancers	Primary B cells from peripheral blood	blood
19	chr11:74853800-74855400	Enhancers	Adipose Nuclei	Adipose
20	chr11:74853800-74855400	Enhancers	HMEC	breast
21	chr11:74853800-74855400	Enhancers	HSMMtube	muscle
22	chr11:74853800-74855400	Enhancers	NHLF	lung
23	chr11:74853800-74855600	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:74853800-74855600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:74853800-74855600	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:74853800-74855600	Enhancers	Fetal Stomach	stomach
27	chr11:74853800-74855600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:74853800-74855600	Enhancers	GM12878-XiMat	blood
29	chr11:74853800-74855600	Enhancers	HSMM	muscle
30	chr11:74853800-74855600	Enhancers	HUVEC	blood vessel
31	chr11:74853800-74855800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:74853800-74855800	Enhancers	Fetal Thymus	thymus
33	chr11:74853800-74856000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:74853800-74856000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:74853800-74856600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:74853800-74856600	Enhancers	Brain Hippocampus Middle	brain
37	chr11:74853800-74857800	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:74853800-74860200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:74853800-74862000	Enhancers	HepG2	liver
40	chr11:74853800-74862200	Enhancers	Placenta	Placenta
41	chr11:74854000-74855400	Enhancers	NH-A	brain
42	chr11:74854000-74855400	Enhancers	NHEK	skin
43	chr11:74854000-74855600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr11:74854000-74855600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:74854000-74855800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:74854000-74856000	Enhancers	Lung	lung
47	chr11:74854000-74856000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:74854000-74862000	Enhancers	Fetal Intestine Large	intestine
49	chr11:74854400-74855600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:74854400-74857600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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