Variant report

Variant	rs7124421
Chromosome Location	chr11:5641619-5641620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5624920..5627842-chr11:5640166..5643396,3	MCF-7	breast:
2	chr11:5638568..5642695-chr11:5644713..5649067,4	K562	blood:

Variant related genes	Relation type
ENSG00000121236	Chromatin interaction
ENSG00000258659	Chromatin interaction
ENSG00000239920	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16933760	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6578667	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110703	1.00[EUR][1000 genomes]
rs7123423	1.00[EUR][1000 genomes]
rs7124516	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124885	1.00[EUR][1000 genomes]
rs7932400	1.00[EUR][1000 genomes]
rs7934944	1.00[EUR][1000 genomes]
rs7939149	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1048455	chr11:5609783-5655393	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv896947	chr11:5631972-5659680	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5618400-5642200	Weak transcription	Left Ventricle	heart
2	chr11:5618600-5645200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:5619600-5642000	Weak transcription	Ovary	ovary
4	chr11:5619600-5645600	Weak transcription	Esophagus	oesophagus
5	chr11:5622200-5641800	Weak transcription	K562	blood
6	chr11:5624800-5641800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:5627600-5642000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:5627600-5645400	Weak transcription	Fetal Stomach	stomach
9	chr11:5628000-5642000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:5628000-5642000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:5629800-5642000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:5630000-5645200	Weak transcription	Pancreas	Pancrea
13	chr11:5632200-5641800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:5632200-5642000	Weak transcription	Fetal Intestine Large	intestine
15	chr11:5632200-5642200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:5632200-5645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:5632400-5641800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:5632400-5642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:5632400-5645000	Weak transcription	GM12878-XiMat	blood
20	chr11:5632400-5645200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:5632400-5645400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:5632600-5641800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:5632600-5642000	Weak transcription	Adipose Nuclei	Adipose
24	chr11:5632600-5642000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:5632600-5645200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:5634000-5641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:5634000-5642400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:5634600-5642000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:5639200-5641800	Weak transcription	Small Intestine	intestine
30	chr11:5639200-5645000	Weak transcription	Primary T cells from cord blood	blood
31	chr11:5639600-5641800	Enhancers	Osteobl	bone
32	chr11:5639600-5642000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:5639600-5642000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:5639800-5641800	Enhancers	NH-A	brain
35	chr11:5640000-5641800	Enhancers	NHLF	lung
36	chr11:5640000-5642000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:5640000-5642000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:5640400-5643400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:5640600-5641800	Weak transcription	Fetal Intestine Small	intestine
40	chr11:5640600-5641800	Weak transcription	HSMM	muscle
41	chr11:5640600-5641800	Weak transcription	HUVEC	blood vessel
42	chr11:5640600-5642200	Weak transcription	HepG2	liver
43	chr11:5640600-5643000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:5640600-5651600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:5640800-5641800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:5640800-5641800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:5640800-5641800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:5640800-5641800	Weak transcription	HMEC	breast
49	chr11:5640800-5642000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:5640800-5642400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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