Variant report

Variant	rs74156218
Chromosome Location	chr1:209807136-209807137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209806336..209810218-chr1:209810896..209813908,3	K562	blood:
2	chr1:209804297..209807709-chr1:209809477..209811913,3	MCF-7	breast:
3	chr1:209805843..209807817-chr1:209809297..209811266,2	K562	blood:
4	chr1:209805910..209807493-chr1:209818305..209821287,2	K562	blood:
5	chr1:209802187..209804271-chr1:209805371..209807292,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2076353	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236891	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209787200-209808400	Strong transcription	Placenta Amnion	Placenta Amnion
2	chr1:209787400-209816200	Strong transcription	NHEK	skin
3	chr1:209799800-209814600	Strong transcription	Fetal Intestine Small	intestine
4	chr1:209800000-209813200	Strong transcription	Fetal Intestine Large	intestine
5	chr1:209801200-209811600	Weak transcription	Stomach Mucosa	stomach
6	chr1:209801200-209814800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:209801400-209812800	Weak transcription	Pancreas	Pancrea
8	chr1:209801400-209814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:209801600-209807600	Weak transcription	Colonic Mucosa	Colon
10	chr1:209801600-209808200	Weak transcription	Fetal Lung	lung
11	chr1:209801600-209814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
13	chr1:209801600-209819800	Weak transcription	Lung	lung
14	chr1:209801800-209812000	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr1:209803200-209807800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr1:209803600-209813200	Strong transcription	Hela-S3	cervix
17	chr1:209804400-209816600	Weak transcription	Small Intestine	intestine
18	chr1:209805200-209808000	Genic enhancers	HMEC	breast
19	chr1:209805200-209809600	Weak transcription	Psoas Muscle	Psoas
20	chr1:209805200-209814600	Weak transcription	Adipose Nuclei	Adipose
21	chr1:209805400-209807400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:209805400-209809600	Weak transcription	Right Atrium	heart
23	chr1:209805400-209814600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:209805400-209814600	Weak transcription	Right Ventricle	heart
25	chr1:209805400-209816200	Weak transcription	Esophagus	oesophagus
26	chr1:209805600-209808000	Weak transcription	Fetal Heart	heart
27	chr1:209805600-209809600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:209805600-209809800	Weak transcription	Left Ventricle	heart
29	chr1:209805800-209809400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:209806200-209807800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:209806200-209808600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:209806200-209813200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:209806400-209807200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:209806400-209807200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:209806400-209807400	Enhancers	HSMM	muscle
36	chr1:209806400-209807600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:209806400-209807600	Weak transcription	Gastric	stomach
38	chr1:209806600-209807200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:209806600-209807800	Enhancers	NH-A	brain
40	chr1:209806600-209807800	Enhancers	Osteobl	bone
41	chr1:209806800-209809800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:209807000-209807600	Enhancers	GM12878-XiMat	blood
43	chr1:209807000-209808000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:209807000-209808000	Strong transcription	Fetal Stomach	stomach
45	chr1:209807000-209808000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:209807000-209808400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:209807000-209808400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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