Variant report

Variant	rs7943486
Chromosome Location	chr11:4624394-4624395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4623447..4627456-chr11:4629484..4632827,3	K562	blood:
2	chr11:4622993..4626979-chr11:4627107..4631153,5	K562	blood:
3	chr11:4623027..4625969-chr11:4627672..4630327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167333	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1001697	0.89[ASN][1000 genomes]
rs1009240	0.91[GIH][hapmap];0.80[TSI][hapmap]
rs10836325	0.81[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10836331	0.80[EUR][1000 genomes]
rs11032968	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11600417	0.82[EUR][1000 genomes]
rs17314159	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2231963	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750992	0.81[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.93[ASN][1000 genomes]
rs3986378	0.83[EUR][1000 genomes]
rs4243952	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4910511	0.81[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap]
rs4910512	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.85[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910633	0.81[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap]
rs4910635	0.81[CHB][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs4910638	0.92[ASN][1000 genomes]
rs6578501	0.89[LWK][hapmap];0.86[YRI][hapmap]
rs7950390	0.82[YRI][hapmap]
rs931811	0.87[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs984496	0.81[CHB][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs999818	0.87[CHB][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1047344	chr11:4524493-4630740	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv870335	chr11:4568743-4654458	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1054705	chr11:4582150-4687238	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv896914	chr11:4587940-4631352	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv553173	chr11:4587940-4689742	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1054801	chr11:4590126-4689520	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv540923	chr11:4590126-4689520	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv553174	chr11:4592718-4682376	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1041836	chr11:4594628-4685732	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv540924	chr11:4594628-4685732	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv1047741	chr11:4598125-4689520	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv540925	chr11:4598125-4689520	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv540926	chr11:4621196-4639254	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4615200-4627400	Strong transcription	Primary T cells from cord blood	blood
2	chr11:4616200-4626800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:4618000-4626800	Strong transcription	Liver	Liver
4	chr11:4618000-4627000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr11:4618000-4627200	Strong transcription	Primary B cells from cord blood	blood
6	chr11:4618000-4628000	Weak transcription	K562	blood
7	chr11:4618200-4625600	Weak transcription	HSMM	muscle
8	chr11:4618200-4626800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:4618400-4626600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:4618400-4626600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:4618400-4626800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:4618400-4626800	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr11:4618400-4627600	Weak transcription	Fetal Heart	heart
14	chr11:4618600-4625000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:4618600-4626200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:4618600-4626400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:4618600-4626600	Strong transcription	Aorta	Aorta
18	chr11:4618600-4626600	Strong transcription	Brain Anterior Caudate	brain
19	chr11:4618600-4626600	Strong transcription	Brain Hippocampus Middle	brain
20	chr11:4618600-4626600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:4618600-4626800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:4618600-4626800	Strong transcription	Brain Cingulate Gyrus	brain
23	chr11:4618600-4626800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:4618600-4626800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:4618600-4626800	Strong transcription	Fetal Stomach	stomach
26	chr11:4618600-4626800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:4618600-4627000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:4618600-4627000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:4618600-4627800	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:4618600-4628400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:4618800-4624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:4618800-4624800	Strong transcription	Gastric	stomach
33	chr11:4618800-4625000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:4618800-4626400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:4618800-4626800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr11:4618800-4627000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:4619000-4624800	Strong transcription	Fetal Intestine Small	intestine
38	chr11:4619000-4625000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:4619000-4626600	Strong transcription	Brain Angular Gyrus	brain
40	chr11:4619000-4626800	Strong transcription	Adipose Nuclei	Adipose
41	chr11:4619000-4626800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:4619200-4626600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:4619200-4626800	Strong transcription	Placenta	Placenta
44	chr11:4619400-4624400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:4619400-4626600	Strong transcription	Ovary	ovary
46	chr11:4619400-4626800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:4619400-4628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:4619600-4624400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:4619600-4624600	Strong transcription	Esophagus	oesophagus
50	chr11:4619600-4624600	Strong transcription	Pancreas	Pancrea

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