Variant report

Variant	rs74101618
Chromosome Location	chr1:94046321-94046322
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	chr1:94040725..94043300-chr1:94045336..94048805,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17110023	1.00[EUR][1000 genomes]
rs55668649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55774036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55777828	1.00[EUR][1000 genomes]
rs55925711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56405388	1.00[EUR][1000 genomes]
rs57418286	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58343196	1.00[EUR][1000 genomes]
rs58642118	1.00[EUR][1000 genomes]
rs60514624	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74101610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101617	1.00[AMR][1000 genomes]
rs7545472	1.00[EUR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
2	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
3	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
4	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr1:94031200-94047800	Weak transcription	GM12878-XiMat	blood
6	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:94033000-94050000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:94036400-94048600	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:94038400-94047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
12	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:94038600-94051800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:94040800-94047400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:94041000-94049400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:94041200-94048800	Genic enhancers	HMEC	breast
19	chr1:94041400-94046600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:94041800-94047000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:94041800-94047600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:94041800-94047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:94042000-94054800	Weak transcription	Primary B cells from cord blood	blood
25	chr1:94042200-94048600	Enhancers	Pancreas	Pancrea
26	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
27	chr1:94042400-94047400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:94042800-94047600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:94042800-94050600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:94042800-94053000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:94043000-94058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:94043200-94047400	Weak transcription	Aorta	Aorta
33	chr1:94043200-94049800	Weak transcription	Fetal Kidney	kidney
34	chr1:94043200-94050400	Strong transcription	NHEK	skin
35	chr1:94043400-94047800	Genic enhancers	Fetal Intestine Small	intestine
36	chr1:94043800-94047200	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr1:94044000-94046600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:94044200-94046600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:94044200-94046800	Genic enhancers	HSMM	muscle
40	chr1:94044400-94046400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:94044600-94046600	Enhancers	HSMMtube	muscle
42	chr1:94044600-94047400	Enhancers	HepG2	liver
43	chr1:94044600-94047800	Enhancers	Fetal Intestine Large	intestine
44	chr1:94044600-94049800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:94044800-94046400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:94044800-94047800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:94044800-94049600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:94045000-94046400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr1:94045000-94046800	Strong transcription	Liver	Liver
50	chr1:94045000-94047600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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