Variant report

Variant	rs4944586
Chromosome Location	chr11:86207608-86207609
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	chr11:86201721..86204217-chr11:86205019..86207965,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10898493	0.92[ASN][1000 genomes]
rs12224723	0.88[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12226269	0.96[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1458384	0.88[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1542426	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs17159928	0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2511082	0.80[CEU][hapmap]
rs61904413	0.90[ASN][1000 genomes]
rs675775	0.80[CEU][hapmap]
rs7102806	0.95[ASN][1000 genomes]
rs7107136	0.88[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7108710	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7119485	0.85[ASN][1000 genomes]
rs7122928	0.84[ASN][1000 genomes]
rs7125366	0.88[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs748102	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs767776	0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7945240	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv274960	chr11:86207030-86209556	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
3	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:86181800-86208800	Weak transcription	Gastric	stomach
6	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
12	chr11:86195200-86208400	Weak transcription	Right Ventricle	heart
13	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:86196000-86208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:86196200-86208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
17	chr11:86196400-86208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:86196600-86208200	Weak transcription	Osteobl	bone
19	chr11:86196800-86208000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:86197000-86208000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:86197600-86208800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:86198000-86211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:86198200-86208200	Weak transcription	Fetal Stomach	stomach
24	chr11:86198200-86210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:86198600-86208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
27	chr11:86199000-86208400	Weak transcription	A549	lung
28	chr11:86199800-86208200	Weak transcription	Lung	lung
29	chr11:86201200-86208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:86201400-86210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:86202400-86208400	Weak transcription	Fetal Brain Female	brain
32	chr11:86202400-86208400	Weak transcription	HUVEC	blood vessel
33	chr11:86202400-86210000	Weak transcription	Fetal Intestine Large	intestine
34	chr11:86202600-86208400	Weak transcription	Spleen	Spleen
35	chr11:86202600-86208400	Weak transcription	NHDF-Ad	bronchial
36	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
37	chr11:86203200-86208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:86204000-86209400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:86204000-86222200	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:86204200-86210800	Weak transcription	Fetal Heart	heart
41	chr11:86204400-86208400	Weak transcription	Stomach Mucosa	stomach
42	chr11:86204400-86208600	Weak transcription	Aorta	Aorta
43	chr11:86204600-86208600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:86204600-86220000	Weak transcription	Colonic Mucosa	Colon
45	chr11:86204800-86208400	Weak transcription	Fetal Intestine Small	intestine
46	chr11:86204800-86209200	Weak transcription	Left Ventricle	heart
47	chr11:86205600-86208000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:86205800-86208000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:86205800-86208000	Weak transcription	HMEC	breast
50	chr11:86205800-86208000	Weak transcription	NHEK	skin

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