Variant report

Variant	rs74134443
Chromosome Location	chr1:185190142-185190143
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	chr1:185185431..185188306-chr1:185188977..185191365,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11806863	1.00[AMR][1000 genomes]
rs12068826	1.00[AMR][1000 genomes]
rs12082624	1.00[AMR][1000 genomes]
rs74134441	1.00[AFR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv1846729	chr1:185175837-185194885	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
3	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:185128400-185201800	Weak transcription	Gastric	stomach
5	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:185137200-185191400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:185137400-185191200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:185137400-185191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:185139800-185191400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:185140000-185190800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:185140000-185191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:185145200-185191400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:185148400-185193400	Weak transcription	Fetal Thymus	thymus
15	chr1:185151000-185193200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:185153200-185191600	Weak transcription	Aorta	Aorta
18	chr1:185154400-185191600	Weak transcription	Ovary	ovary
19	chr1:185160000-185192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:185160600-185191600	Weak transcription	Brain Germinal Matrix	brain
21	chr1:185160800-185192000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:185161800-185191400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:185162000-185190800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:185163600-185190600	Weak transcription	Placenta	Placenta
25	chr1:185168000-185201800	Weak transcription	Primary T cells from cord blood	blood
26	chr1:185168200-185191400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:185168400-185192200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:185170400-185192000	Weak transcription	Fetal Intestine Large	intestine
29	chr1:185170800-185191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:185170800-185191600	Weak transcription	Fetal Intestine Small	intestine
31	chr1:185170800-185191600	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:185170800-185192600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:185170800-185199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
35	chr1:185171400-185192000	Weak transcription	Fetal Brain Female	brain
36	chr1:185171400-185193200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:185173000-185191200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:185174000-185207200	Weak transcription	NHDF-Ad	bronchial
39	chr1:185175400-185191400	Weak transcription	Fetal Lung	lung
40	chr1:185175600-185192000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
42	chr1:185177600-185192800	Weak transcription	Primary B cells from cord blood	blood
43	chr1:185177800-185202600	Weak transcription	Fetal Kidney	kidney
44	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
45	chr1:185178600-185190200	Weak transcription	Adipose Nuclei	Adipose
46	chr1:185178600-185191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:185178600-185191600	Weak transcription	Left Ventricle	heart
48	chr1:185179800-185191400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:185180400-185191800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:185180600-185191400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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