Variant report

Variant	rs634636
Chromosome Location	chr11:100813170-100813171
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	chr11:100805825..100807914-chr11:100811015..100813625,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10488785	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11224506	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11224510	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1940225	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2034017	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2509107	0.93[CEU][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4754707	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4754715	0.88[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs561268	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs581921	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs612046	0.88[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs629813	0.94[CEU][hapmap];0.91[CHB][hapmap];0.80[AMR][1000 genomes]
rs651301	0.82[CEU][hapmap];0.87[JPT][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs664212	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1054453	chr11:100802521-100814626	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv1037830	chr11:100802521-100818129	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1051139	chr11:100802521-100819447	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1051291	chr11:100803267-100814626	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:100798600-100826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:100798600-100828200	Weak transcription	Gastric	stomach
5	chr11:100798800-100832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:100800200-100846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:100800800-100835800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:100801000-100814800	Weak transcription	HSMM	muscle
9	chr11:100801000-100819600	Weak transcription	HSMMtube	muscle
10	chr11:100801000-100823200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:100801000-100832400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:100801000-100835000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:100801400-100833800	Weak transcription	NH-A	brain
14	chr11:100803000-100822600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:100804000-100826200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:100806600-100837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:100806800-100832400	Weak transcription	Fetal Intestine Large	intestine
18	chr11:100807800-100844600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:100808000-100831200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:100808000-100832200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:100808000-100846600	Weak transcription	Ovary	ovary
22	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
23	chr11:100810400-100813200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:100810400-100845000	Weak transcription	Primary B cells from cord blood	blood
25	chr11:100810600-100848400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:100811600-100813200	Enhancers	Fetal Lung	lung
27	chr11:100811800-100813800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:100812000-100814200	Enhancers	Fetal Heart	heart
29	chr11:100812000-100825000	Weak transcription	Pancreas	Pancrea
30	chr11:100812000-100826600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:100812000-100832000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:100812000-100841000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:100812200-100813400	Enhancers	Fetal Muscle Leg	muscle
34	chr11:100812600-100813200	Enhancers	Right Ventricle	heart
35	chr11:100812600-100813600	Enhancers	Stomach Mucosa	stomach
36	chr11:100812800-100813200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:100812800-100813200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:100812800-100813200	Enhancers	Adipose Nuclei	Adipose
39	chr11:100812800-100813200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:100812800-100813200	Enhancers	Brain Substantia Nigra	brain
41	chr11:100812800-100813200	Enhancers	Fetal Stomach	stomach
42	chr11:100812800-100813200	Enhancers	Psoas Muscle	Psoas
43	chr11:100812800-100813200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:100812800-100813200	Enhancers	Stomach Smooth Muscle	stomach
45	chr11:100812800-100813400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:100812800-100813400	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:100812800-100813400	Enhancers	Brain Hippocampus Middle	brain
48	chr11:100812800-100813600	Enhancers	Brain Anterior Caudate	brain
49	chr11:100813000-100813200	Genic enhancers	Placenta	Placenta
50	chr11:100813000-100813200	Enhancers	NHDF-Ad	bronchial

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