Variant report

Variant	rs74092316
Chromosome Location	chr1:78328965-78328966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17098321	1.00[EUR][1000 genomes]
rs17101286	1.00[EUR][1000 genomes]
rs35178440	1.00[EUR][1000 genomes]
rs55717739	1.00[EUR][1000 genomes]
rs55872024	1.00[EUR][1000 genomes]
rs56010524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58120905	1.00[EUR][1000 genomes]
rs59338720	1.00[EUR][1000 genomes]
rs60000721	1.00[EUR][1000 genomes]
rs60658102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61553400	1.00[EUR][1000 genomes]
rs61655329	1.00[EUR][1000 genomes]
rs74090669	1.00[EUR][1000 genomes]
rs74090673	1.00[EUR][1000 genomes]
rs74090678	1.00[EUR][1000 genomes]
rs74090686	1.00[EUR][1000 genomes]
rs74092304	1.00[EUR][1000 genomes]
rs74092305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092337	1.00[EUR][1000 genomes]
rs74092338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092342	1.00[EUR][1000 genomes]
rs74092352	1.00[EUR][1000 genomes]
rs74092353	1.00[AMR][1000 genomes];1.00[EUR][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	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78282800-78353400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:78284600-78333000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:78285600-78332000	Weak transcription	Spleen	Spleen
4	chr1:78286400-78333200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:78290200-78334200	Weak transcription	Gastric	stomach
6	chr1:78296800-78329000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:78298400-78340400	Weak transcription	Colonic Mucosa	Colon
8	chr1:78298600-78352400	Weak transcription	Right Ventricle	heart
9	chr1:78298800-78332800	Weak transcription	Fetal Kidney	kidney
10	chr1:78299400-78340200	Weak transcription	NHEK	skin
11	chr1:78299400-78341200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:78299600-78340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:78299600-78343000	Weak transcription	K562	blood
14	chr1:78299600-78353800	Weak transcription	Brain Substantia Nigra	brain
15	chr1:78300200-78331600	Weak transcription	Lung	lung
16	chr1:78300200-78332600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:78300800-78342200	Weak transcription	Fetal Brain Male	brain
18	chr1:78301400-78332800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:78301400-78353200	Weak transcription	HSMMtube	muscle
20	chr1:78301800-78342400	Weak transcription	NHLF	lung
21	chr1:78302000-78332000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:78302800-78334200	Weak transcription	HepG2	liver
23	chr1:78303800-78332800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:78305800-78332200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:78305800-78342600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:78306000-78342600	Weak transcription	Brain Angular Gyrus	brain
27	chr1:78309200-78352400	Weak transcription	Aorta	Aorta
28	chr1:78309600-78330200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:78310400-78332000	Weak transcription	Fetal Thymus	thymus
30	chr1:78310600-78331600	Weak transcription	Left Ventricle	heart
31	chr1:78310800-78333000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:78311000-78332600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:78312000-78332800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:78312000-78353000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:78313000-78331800	Weak transcription	Osteobl	bone
36	chr1:78313000-78353200	Weak transcription	HUVEC	blood vessel
37	chr1:78313400-78329000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:78313400-78329000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:78313400-78343200	Weak transcription	Pancreas	Pancrea
40	chr1:78313800-78330400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:78313800-78332000	Weak transcription	Thymus	Thymus
42	chr1:78316200-78332200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:78320000-78332600	Weak transcription	Brain Anterior Caudate	brain
44	chr1:78321000-78332200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:78321200-78332600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:78323400-78329800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:78323400-78329800	Weak transcription	Fetal Intestine Small	intestine
48	chr1:78323800-78331800	Weak transcription	NHDF-Ad	bronchial
49	chr1:78323800-78340600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:78324400-78329000	Weak transcription	Fetal Muscle Leg	muscle

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