Variant report

Variant	rs7116002
Chromosome Location	chr11:4618570-4618571
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4618307..4620413-chr11:4621041..4623976,4	K562	blood:
2	chr11:4614691..4617476-chr11:4618507..4620828,3	K562	blood:

Variant related genes	Relation type
ENSG00000232268	Chromatin interaction
ENSG00000167333	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10500606	0.82[CEU][hapmap];0.93[YRI][hapmap]
rs10768113	0.82[CEU][hapmap]
rs12272681	1.00[JPT][hapmap]
rs16906833	1.00[JPT][hapmap]
rs17221921	0.82[CEU][hapmap]
rs2231960	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2231972	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2231978	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2566252	1.00[JPT][hapmap]
rs2566253	1.00[JPT][hapmap]
rs2657149	1.00[JPT][hapmap]
rs2657152	1.00[JPT][hapmap]
rs34282598	1.00[ASN][1000 genomes]
rs3794048	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3861787	0.82[CEU][hapmap]
rs4454710	1.00[JPT][hapmap]
rs4910650	0.82[CEU][hapmap]
rs4910652	0.82[CEU][hapmap]
rs67456772	1.00[ASN][1000 genomes]
rs7106856	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7108599	0.82[CEU][hapmap]
rs7116019	0.93[YRI][hapmap]
rs7934336	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7950390	0.82[CEU][hapmap]
rs7951206	0.82[CEU][hapmap];0.82[YRI][hapmap]
rs919518	1.00[JPT][hapmap]
rs919519	1.00[JPT][hapmap]

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	esv2762892	chr11:4541825-4619236	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4610000-4619600	Weak transcription	Left Ventricle	heart
2	chr11:4611600-4621400	Weak transcription	Stomach Mucosa	stomach
3	chr11:4612000-4618600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:4612000-4622400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:4612400-4620800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:4612400-4621400	Weak transcription	Small Intestine	intestine
7	chr11:4612600-4620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:4612800-4621000	Weak transcription	A549	lung
9	chr11:4613000-4619600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr11:4613400-4619600	Weak transcription	Psoas Muscle	Psoas
11	chr11:4613600-4618600	Weak transcription	Aorta	Aorta
12	chr11:4613600-4619600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:4613600-4621000	Weak transcription	Fetal Kidney	kidney
14	chr11:4613800-4618600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:4613800-4619400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:4614000-4619800	Weak transcription	Fetal Lung	lung
17	chr11:4614200-4619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:4614200-4620000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:4614400-4618800	Weak transcription	Gastric	stomach
20	chr11:4614600-4618600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:4614600-4618600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:4614600-4618600	Weak transcription	Fetal Stomach	stomach
23	chr11:4614600-4620600	Weak transcription	Lung	lung
24	chr11:4614600-4621200	Weak transcription	NHDF-Ad	bronchial
25	chr11:4614600-4622200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:4614800-4618600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:4614800-4618600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:4614800-4618800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:4614800-4619000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:4614800-4619200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:4614800-4621400	Weak transcription	HMEC	breast
32	chr11:4615000-4619800	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:4615000-4621200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:4615200-4618600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:4615200-4619600	Weak transcription	Pancreas	Pancrea
36	chr11:4615200-4619600	Weak transcription	Thymus	Thymus
37	chr11:4615200-4620800	Weak transcription	NHLF	lung
38	chr11:4615200-4621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:4615200-4627400	Strong transcription	Primary T cells from cord blood	blood
40	chr11:4615400-4618600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:4615400-4619200	Weak transcription	Placenta	Placenta
42	chr11:4615400-4619800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:4615600-4618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:4615800-4620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:4616200-4619400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:4616200-4619800	Weak transcription	Fetal Brain Female	brain
47	chr11:4616200-4626800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:4616400-4618800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:4616400-4620800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:4616600-4619000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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