Variant report

Variant	rs4987931
Chromosome Location	chr11:108118416-108118417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108096808..108099357-chr11:108117169..108119073,2	K562	blood:
2	chr11:108116931..108119053-chr11:108122941..108124773,2	K562	blood:
3	chr11:108114532..108116350-chr11:108118215..108120268,2	K562	blood:

Variant related genes	Relation type
ENSG00000149311	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3218695	1.00[AFR][1000 genomes]
rs3218712	0.84[AFR][1000 genomes]
rs4987885	0.90[AFR][1000 genomes]
rs4987894	0.90[AFR][1000 genomes]
rs4987895	0.90[AFR][1000 genomes]
rs4987914	0.82[AFR][1000 genomes]
rs4987921	0.90[AFR][1000 genomes]
rs4987937	0.90[AFR][1000 genomes]
rs4987979	0.95[AFR][1000 genomes]
rs4988003	0.84[AFR][1000 genomes]
rs4988038	0.84[AFR][1000 genomes]
rs4988062	0.84[AFR][1000 genomes]
rs4988073	0.84[AFR][1000 genomes]
rs61913704	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv556430	chr11:108097333-108175462	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094600-108121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108094800-108147400	Weak transcription	Esophagus	oesophagus
3	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:108095000-108121400	Weak transcription	Colonic Mucosa	Colon
5	chr11:108095400-108119800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:108095800-108119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:108095800-108122400	Weak transcription	Brain Angular Gyrus	brain
8	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
9	chr11:108096400-108156400	Weak transcription	NHLF	lung
10	chr11:108096600-108121400	Weak transcription	Spleen	Spleen
11	chr11:108096600-108128400	Weak transcription	Pancreas	Pancrea
12	chr11:108097000-108129200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:108098400-108122400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:108098400-108131600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:108099800-108119600	Weak transcription	NHDF-Ad	bronchial
16	chr11:108099800-108139000	Weak transcription	Hela-S3	cervix
17	chr11:108100600-108119200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:108100600-108128200	Weak transcription	K562	blood
19	chr11:108101200-108128200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:108101600-108130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:108101800-108121400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:108102200-108121400	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:108104200-108130000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:108104200-108147400	Weak transcription	Gastric	stomach
25	chr11:108104600-108121400	Weak transcription	Right Ventricle	heart
26	chr11:108104600-108144000	Weak transcription	Lung	lung
27	chr11:108105600-108130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:108107200-108120000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:108107200-108124800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:108107600-108119800	Weak transcription	HMEC	breast
31	chr11:108108000-108120000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:108108200-108121600	Weak transcription	Brain Germinal Matrix	brain
33	chr11:108108200-108125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:108108200-108144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:108108400-108184800	Weak transcription	NHEK	skin
36	chr11:108108600-108121400	Weak transcription	Fetal Kidney	kidney
37	chr11:108108600-108121600	Weak transcription	HUVEC	blood vessel
38	chr11:108108600-108125400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:108108600-108128000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:108108800-108147600	Weak transcription	Psoas Muscle	Psoas
41	chr11:108109600-108130600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:108110200-108121200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:108110400-108124000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:108110800-108120800	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:108110800-108121400	Weak transcription	HSMMtube	muscle
46	chr11:108111200-108119400	Weak transcription	Fetal Lung	lung
47	chr11:108111200-108124600	Weak transcription	A549	lung
48	chr11:108111400-108118600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:108111400-108118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:108111400-108118600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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