Variant report

Variant	rs4944859
Chromosome Location	chr11:73424135-73424136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73422546..73424731-chr11:73470843..73472960,2	K562	blood:

Variant related genes	Relation type
ENSG00000175582	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10898933	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10898934	0.82[AFR][1000 genomes]
rs10898944	0.80[EUR][1000 genomes]
rs11235903	0.92[EUR][1000 genomes]
rs1466218	0.93[YRI][hapmap]
rs1525750	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1525751	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1621654	1.00[YRI][hapmap]
rs1670548	0.89[EUR][1000 genomes]
rs1670560	0.93[YRI][hapmap]
rs1670561	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs1670571	0.86[YRI][hapmap]
rs1723834	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1723838	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1723839	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1723842	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1723844	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1723845	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1723846	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1723849	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17310409	0.86[CEU][hapmap]
rs1792157	0.88[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs1792164	0.87[CEU][hapmap];0.93[YRI][hapmap]
rs1792186	0.93[YRI][hapmap]
rs1792195	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1792196	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1792202	0.92[YRI][hapmap]
rs1880642	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1880643	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1976914	0.89[EUR][1000 genomes]
rs2008722	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2037706	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2037709	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2056649	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2366944	0.96[EUR][1000 genomes]
rs2462617	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2511262	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs2511263	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2511265	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2511269	0.89[EUR][1000 genomes]
rs2511275	0.93[YRI][hapmap]
rs2515091	0.85[CEU][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes]
rs2515095	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs2886812	0.93[YRI][hapmap]
rs4548648	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4944026	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4944027	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4944030	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4944854	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4944857	0.96[EUR][1000 genomes]
rs4944860	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944864	0.94[EUR][1000 genomes]
rs4944865	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs594814	0.89[ASW][hapmap]
rs610280	1.00[ASW][hapmap]
rs652229	1.00[ASW][hapmap]
rs6592528	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs6592529	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7101957	0.81[TSI][hapmap]
rs7108695	1.00[CEU][hapmap]
rs7396121	0.96[EUR][1000 genomes]
rs7932364	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs7942515	0.96[EUR][1000 genomes]
rs940831	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9634024	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
6	nsv390	chr11:73388188-73432899	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv975363	chr11:73411321-73426936	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73374400-73427200	Weak transcription	A549	lung
2	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
3	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
4	chr11:73383400-73427200	Weak transcription	Fetal Heart	heart
5	chr11:73384000-73427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
8	chr11:73389200-73427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
10	chr11:73390800-73429600	Weak transcription	NHLF	lung
11	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:73394400-73430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:73397800-73426600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
16	chr11:73404400-73424200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:73404400-73427400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:73405200-73429600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:73405400-73426400	Weak transcription	Brain Substantia Nigra	brain
20	chr11:73407000-73432000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:73410000-73434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:73410200-73427400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:73410800-73431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:73411000-73426400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:73411000-73447600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
28	chr11:73413400-73440400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
30	chr11:73413600-73447600	Weak transcription	Left Ventricle	heart
31	chr11:73415000-73425400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:73415000-73436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
34	chr11:73416400-73429600	Weak transcription	Ovary	ovary
35	chr11:73417000-73440400	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:73417200-73426400	Weak transcription	Brain Angular Gyrus	brain
37	chr11:73417200-73427200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
39	chr11:73417800-73427800	Weak transcription	Fetal Lung	lung
40	chr11:73417800-73429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:73418200-73443400	Weak transcription	Brain Germinal Matrix	brain
42	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:73418600-73429600	Weak transcription	HSMMtube	muscle
44	chr11:73419000-73425600	Weak transcription	GM12878-XiMat	blood
45	chr11:73419000-73425800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:73419000-73426000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:73419000-73429600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:73419000-73429600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:73419400-73429200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:73420000-73424800	Strong transcription	HMEC	breast

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