Variant report

Variant	rs7883579
Chromosome Location	chr1:171110721-171110722
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	chr1:171109416..171111104-chr1:171115194..171116914,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10399740	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912500	1.00[AMR][1000 genomes]
rs10912599	1.00[AMR][1000 genomes]
rs10912623	1.00[AMR][1000 genomes]
rs12061893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066832	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070707	1.00[YRI][hapmap]
rs12071161	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072582	0.90[AFR][1000 genomes]
rs12073562	0.90[AFR][1000 genomes]
rs12075699	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085769	1.00[AMR][1000 genomes]
rs56910253	1.00[AMR][1000 genomes]
rs6656513	1.00[AMR][1000 genomes]
rs6689816	1.00[AMR][1000 genomes]
rs6701657	1.00[AMR][1000 genomes]
rs73028643	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032550	1.00[AMR][1000 genomes]
rs73032556	1.00[AMR][1000 genomes]
rs73032574	1.00[AMR][1000 genomes]
rs73032600	1.00[AMR][1000 genomes]
rs73034309	1.00[AMR][1000 genomes]
rs7552423	0.86[YRI][hapmap];1.00[AMR][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171105400-171111200	Weak transcription	Aorta	Aorta
2	chr1:171107200-171110800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:171107200-171111200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:171107200-171111200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:171107200-171111400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:171107200-171111400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:171107800-171112400	Enhancers	Fetal Muscle Leg	muscle
8	chr1:171108000-171112600	Weak transcription	Small Intestine	intestine
9	chr1:171108400-171112800	Enhancers	NHLF	lung
10	chr1:171108800-171111000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:171108800-171112400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:171108800-171112800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:171109000-171111200	Enhancers	Fetal Intestine Small	intestine
14	chr1:171109000-171112200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:171109000-171112200	Enhancers	Stomach Mucosa	stomach
16	chr1:171109200-171111000	Enhancers	Fetal Intestine Large	intestine
17	chr1:171109200-171112000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:171109200-171112200	Weak transcription	Psoas Muscle	Psoas
19	chr1:171109200-171112400	Enhancers	Fetal Stomach	stomach
20	chr1:171109400-171111000	Enhancers	Liver	Liver
21	chr1:171109400-171111200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:171109400-171112000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:171109400-171112800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:171109600-171111200	Enhancers	Fetal Heart	heart
25	chr1:171109800-171111800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:171110000-171111000	Weak transcription	Ovary	ovary
27	chr1:171110200-171110800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:171110200-171110800	Enhancers	Fetal Kidney	kidney
29	chr1:171110200-171111200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:171110200-171111200	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:171110200-171111200	Enhancers	NHDF-Ad	bronchial
32	chr1:171110200-171111600	Enhancers	Brain Hippocampus Middle	brain
33	chr1:171110200-171112200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:171110200-171112400	Enhancers	Osteobl	bone
35	chr1:171110400-171110800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:171110400-171110800	Enhancers	Colon Smooth Muscle	Colon
37	chr1:171110400-171110800	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:171110400-171110800	Flanking Active TSS	Fetal Lung	lung
39	chr1:171110400-171110800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:171110400-171111000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:171110400-171111200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:171110400-171112000	Enhancers	HSMMtube	muscle
43	chr1:171110400-171112000	Enhancers	NH-A	brain
44	chr1:171110400-171112200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr1:171110600-171110800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:171110600-171110800	Enhancers	Brain Anterior Caudate	brain
47	chr1:171110600-171110800	Enhancers	Right Atrium	heart
48	chr1:171110600-171111000	Enhancers	Adipose Nuclei	Adipose
49	chr1:171110600-171111400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:171110600-171111400	Enhancers	Left Ventricle	heart

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