Variant report

Variant	rs74122928
Chromosome Location	chr1:171676246-171676247
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	chr1:171667939..171671943-chr1:171675100..171678672,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VAMP4-4	chr1:171676225-171676512	NONHSAT007577

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10913197	1.00[AMR][1000 genomes]
rs10913261	1.00[AMR][1000 genomes]
rs12080096	1.00[AMR][1000 genomes]
rs12088873	1.00[AMR][1000 genomes]
rs60834491	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv1800458	chr1:171667663-171701129	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171664400-171685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:171664800-171684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:171665000-171692000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:171665600-171705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:171666000-171676600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:171666000-171685000	Weak transcription	Brain Germinal Matrix	brain
8	chr1:171666000-171705400	Weak transcription	Pancreas	Pancrea
9	chr1:171666200-171682600	Weak transcription	Lung	lung
10	chr1:171666200-171684600	Weak transcription	Fetal Stomach	stomach
11	chr1:171666200-171684800	Weak transcription	Thymus	Thymus
12	chr1:171666600-171676600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:171666600-171684800	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:171666600-171686200	Weak transcription	Gastric	stomach
15	chr1:171666800-171679200	Weak transcription	NH-A	brain
16	chr1:171666800-171686800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:171666800-171692000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:171666800-171692000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:171666800-171692200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:171666800-171702400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:171667000-171676600	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:171667000-171676800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:171667000-171685000	Weak transcription	Osteobl	bone
24	chr1:171667000-171692000	Weak transcription	Fetal Brain Female	brain
25	chr1:171667000-171692200	Weak transcription	Brain Anterior Caudate	brain
26	chr1:171667600-171681200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:171667600-171692000	Weak transcription	Fetal Lung	lung
28	chr1:171667800-171676400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:171667800-171688400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:171667800-171688800	Weak transcription	Spleen	Spleen
31	chr1:171667800-171692000	Weak transcription	Fetal Thymus	thymus
32	chr1:171668000-171685800	Weak transcription	Esophagus	oesophagus
33	chr1:171668200-171680200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:171668400-171676600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:171668400-171677200	Strong transcription	NHDF-Ad	bronchial
36	chr1:171668600-171684800	Weak transcription	Fetal Kidney	kidney
37	chr1:171668600-171692400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:171668800-171705400	Weak transcription	Right Ventricle	heart
39	chr1:171668800-171708200	Weak transcription	Small Intestine	intestine
40	chr1:171669000-171676600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:171669000-171676600	Weak transcription	Aorta	Aorta
42	chr1:171669000-171676600	Weak transcription	Left Ventricle	heart
43	chr1:171669000-171678200	Weak transcription	NHLF	lung
44	chr1:171669400-171685800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:171669600-171685800	Weak transcription	NHEK	skin
46	chr1:171669600-171705400	Weak transcription	Fetal Brain Male	brain
47	chr1:171670000-171680800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:171670000-171688200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:171670400-171677000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:171670600-171685600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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