Variant report

Variant	rs4910575
Chromosome Location	chr11:5724694-5724695
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	11:5033143-5038367..11:5721056-5732713	GM12878	blood:
2	chr11:5723116..5725738-chr11:5727470..5730320,2	K562	blood:
3	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
4	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
5	11:5087036-5092291..11:5721056-5732713	K562	blood:
6	11:5488942-5494633..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
7	11:5586716-5591774..11:5721056-5732713	GM12878	blood:

Variant related genes	Relation type
ENSG00000273085	Chromatin interaction
ENSG00000233646	Chromatin interaction
ENSG00000230484	Chromatin interaction
ENSG00000132274	Chromatin interaction
ENSG00000227023	Chromatin interaction
ENSG00000225003	Chromatin interaction
ENSG00000224300	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10742775	0.94[ASN][1000 genomes]
rs10769200	0.87[ASN][1000 genomes]
rs12576875	0.88[ASN][1000 genomes]
rs2178	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2179	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4243963	0.85[ASN][1000 genomes]
rs4243964	0.87[ASN][1000 genomes]
rs4290258	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5021595	0.94[ASN][1000 genomes]
rs7480654	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8181599	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	esv3353991	chr11:5722526-5724774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv553277	chr11:5722948-6010075	Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5712200-5725200	Weak transcription	Fetal Heart	heart
2	chr11:5712400-5730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:5712400-5730600	Weak transcription	Fetal Lung	lung
4	chr11:5712400-5731800	Weak transcription	NH-A	brain
5	chr11:5712400-5732400	Weak transcription	Pancreas	Pancrea
6	chr11:5712400-5732400	Weak transcription	Stomach Mucosa	stomach
7	chr11:5712600-5729200	Weak transcription	Esophagus	oesophagus
8	chr11:5712600-5730200	Weak transcription	NHEK	skin
9	chr11:5712600-5732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:5712600-5732600	Weak transcription	Colonic Mucosa	Colon
11	chr11:5713000-5726000	Weak transcription	Left Ventricle	heart
12	chr11:5713000-5734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:5713600-5730800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:5713600-5734800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:5713600-5745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:5713800-5729800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:5713800-5731200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:5714000-5732600	Weak transcription	Brain Substantia Nigra	brain
19	chr11:5715200-5733000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:5715800-5729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:5717400-5726200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:5717400-5732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:5717400-5734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:5717600-5731200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr11:5717600-5732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:5718000-5728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:5718000-5734600	Weak transcription	HUVEC	blood vessel
28	chr11:5718400-5729000	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:5720000-5727000	Weak transcription	Ovary	ovary
30	chr11:5720000-5727600	Weak transcription	HSMMtube	muscle
31	chr11:5720000-5729200	Weak transcription	Aorta	Aorta
32	chr11:5720000-5729200	Weak transcription	Gastric	stomach
33	chr11:5720000-5729200	Weak transcription	Spleen	Spleen
34	chr11:5720000-5732600	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:5720200-5725000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:5720200-5726600	Weak transcription	Fetal Thymus	thymus
37	chr11:5720200-5728800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:5720200-5729200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:5720200-5729200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:5720200-5730200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:5720200-5730600	Weak transcription	Placenta	Placenta
42	chr11:5720200-5731800	Weak transcription	Small Intestine	intestine
43	chr11:5720200-5731800	Weak transcription	NHLF	lung
44	chr11:5720200-5732600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr11:5720400-5728000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:5720400-5728000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:5720400-5729200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:5720400-5729200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:5720400-5732800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:5720600-5727000	Weak transcription	Lung	lung

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