Variant report

Variant	rs74101611
Chromosome Location	chr1:94042030-94042031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94024687..94026929-chr1:94041608..94043835,2	K562	blood:
2	chr1:94040725..94043300-chr1:94045336..94048805,3	K562	blood:
3	chr1:94034627..94036946-chr1:94040271..94043197,2	K562	blood:
4	chr1:94040561..94042270-chr1:94043960..94045588,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12094668	1.00[EUR][1000 genomes]
rs55936005	1.00[EUR][1000 genomes]
rs57418286	1.00[EUR][1000 genomes]
rs60514624	1.00[EUR][1000 genomes]
rs6681200	1.00[EUR][1000 genomes]
rs74101616	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101617	1.00[EUR][1000 genomes]
rs74101657	1.00[EUR][1000 genomes]
rs9782878	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
3	chr1:94022200-94044200	Weak transcription	Small Intestine	intestine
4	chr1:94024000-94044200	Strong transcription	HSMM	muscle
5	chr1:94025000-94043400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:94025200-94043000	Strong transcription	Liver	Liver
7	chr1:94025200-94043000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
9	chr1:94025600-94043400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
11	chr1:94028000-94042600	Weak transcription	Fetal Kidney	kidney
12	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:94031200-94047800	Weak transcription	GM12878-XiMat	blood
14	chr1:94031400-94042200	Strong transcription	Ovary	ovary
15	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:94032200-94045200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:94033000-94050000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:94033400-94043200	Strong transcription	Aorta	Aorta
20	chr1:94033400-94044800	Weak transcription	Right Atrium	heart
21	chr1:94033400-94045000	Strong transcription	NHLF	lung
22	chr1:94033400-94045000	Strong transcription	Osteobl	bone
23	chr1:94033600-94044000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr1:94034000-94043800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr1:94034200-94042800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:94034800-94043000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:94035000-94044200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr1:94035200-94044600	Strong transcription	Lung	lung
29	chr1:94035200-94045200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:94036000-94043000	Strong transcription	A549	lung
31	chr1:94036200-94044800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:94036400-94048600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:94038000-94044000	Weak transcription	Esophagus	oesophagus
34	chr1:94038400-94043600	Strong transcription	HUVEC	blood vessel
35	chr1:94038400-94047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
37	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
38	chr1:94038600-94051800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:94038800-94044000	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:94039800-94043400	Strong transcription	Fetal Intestine Small	intestine
42	chr1:94040000-94042800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:94040000-94043400	Strong transcription	Gastric	stomach
44	chr1:94040000-94045600	Genic enhancers	Fetal Muscle Leg	muscle
45	chr1:94040000-94045800	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:94040200-94042800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:94040200-94043000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:94040200-94043000	Strong transcription	Colonic Mucosa	Colon
50	chr1:94040200-94044800	Weak transcription	Right Ventricle	heart

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