Variant report

Variant	rs988749
Chromosome Location	chr6:131159488-131159489
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1006655	0.82[YRI][hapmap]
rs10782244	0.81[AFR][1000 genomes]
rs1334689	0.81[AFR][1000 genomes]
rs1571911	0.84[YRI][hapmap];0.91[AFR][1000 genomes]
rs1582055	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1999474	0.81[AFR][1000 genomes]
rs2008598	0.84[CEU][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2039509	0.81[EUR][1000 genomes]
rs2039830	0.81[AFR][1000 genomes]
rs2184408	0.93[CEU][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4075265	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4895897	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4895898	0.81[AFR][1000 genomes]
rs4897475	0.81[AFR][1000 genomes]
rs6536	0.89[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6569706	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6569709	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6907284	0.83[CEU][hapmap]
rs6921455	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6935267	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs6938309	0.81[AFR][1000 genomes]
rs6938735	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs761835	0.90[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7738572	0.81[AFR][1000 genomes]
rs7741462	0.84[AFR][1000 genomes]
rs7763473	0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7768048	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs7769310	0.81[AFR][1000 genomes]
rs7774832	0.81[AFR][1000 genomes]
rs9285468	0.91[AFR][1000 genomes]
rs9375777	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9388867	0.81[AFR][1000 genomes]
rs9402298	0.81[AFR][1000 genomes]
rs998228	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
2	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
3	chr6:131149000-131172600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:131149400-131213200	Weak transcription	Pancreas	Pancrea
5	chr6:131149600-131160400	Weak transcription	Fetal Brain Male	brain
6	chr6:131150400-131161400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:131150600-131183400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:131152400-131161800	Strong transcription	Fetal Intestine Large	intestine
10	chr6:131152800-131168000	Weak transcription	Fetal Kidney	kidney
11	chr6:131153400-131159600	Weak transcription	Fetal Stomach	stomach
12	chr6:131153600-131162400	Weak transcription	Fetal Lung	lung
13	chr6:131154000-131173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:131154600-131160800	Weak transcription	Fetal Intestine Small	intestine
15	chr6:131155000-131160200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:131155000-131174600	Weak transcription	Aorta	Aorta
17	chr6:131156200-131159800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:131156200-131161000	Genic enhancers	Liver	Liver
19	chr6:131157200-131159600	Weak transcription	NHLF	lung
20	chr6:131157400-131160000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:131157600-131159600	Weak transcription	Dnd41	blood
22	chr6:131157600-131170200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:131157800-131161400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:131157800-131162400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:131157800-131163400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:131157800-131168200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:131157800-131170200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:131158000-131159600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:131158000-131160000	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:131158000-131172200	Weak transcription	Brain Anterior Caudate	brain
31	chr6:131158200-131159600	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:131158200-131160000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr6:131158200-131160000	Weak transcription	Brain Substantia Nigra	brain
34	chr6:131158200-131162200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:131158200-131163000	Strong transcription	HepG2	liver
36	chr6:131158200-131173800	Weak transcription	NH-A	brain
37	chr6:131158200-131179400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:131158200-131190600	Weak transcription	Spleen	Spleen
39	chr6:131158200-131214400	Weak transcription	Lung	lung
40	chr6:131158400-131160800	Strong transcription	Fetal Muscle Leg	muscle
41	chr6:131158400-131163000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr6:131158400-131168200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:131158600-131160000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:131158600-131160800	Weak transcription	Primary B cells from cord blood	blood
45	chr6:131158600-131174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:131158800-131159600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:131158800-131160000	Weak transcription	Brain Angular Gyrus	brain
48	chr6:131158800-131160800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:131159000-131159800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:131159000-131162200	Weak transcription	Osteobl	bone

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