Variant report

Variant	rs670254
Chromosome Location	chr1:93719016-93719017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93716580..93719392-chr1:93724593..93726917,2	K562	blood:
2	chr1:93717824..93719584-chr1:93817437..93819207,2	K562	blood:
3	chr1:93717455..93719072-chr1:93721833..93723353,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1536260	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249730	1.00[ASN][1000 genomes]
rs2265926	1.00[ASN][1000 genomes]
rs532024	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:93690400-93729400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:93691200-93732400	Weak transcription	HUVEC	blood vessel
6	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:93704200-93729800	Weak transcription	Hela-S3	cervix
8	chr1:93706400-93727000	Weak transcription	K562	blood
9	chr1:93707000-93727400	Weak transcription	Liver	Liver
10	chr1:93708800-93720200	Weak transcription	NHLF	lung
11	chr1:93709000-93719800	Weak transcription	HSMM	muscle
12	chr1:93709000-93720800	Weak transcription	Osteobl	bone
13	chr1:93709000-93724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:93709000-93726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:93709000-93727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:93709000-93728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:93709000-93728200	Weak transcription	HMEC	breast
18	chr1:93709200-93727400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:93709400-93727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:93709600-93720200	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:93709600-93725000	Weak transcription	HepG2	liver
22	chr1:93709600-93725600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:93709600-93727000	Weak transcription	NHEK	skin
24	chr1:93709800-93727000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:93709800-93727000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:93710000-93721600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:93710000-93727000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:93710200-93721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:93710200-93722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:93710200-93724200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:93710200-93727000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:93710600-93724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:93710800-93720000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:93711000-93719800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:93711600-93727000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:93713200-93727000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:93713400-93721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:93715200-93720800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:93716200-93728400	Weak transcription	Pancreas	Pancrea
40	chr1:93716400-93719400	ZNF genes & repeats	GM12878-XiMat	blood
41	chr1:93716800-93727600	Weak transcription	Fetal Kidney	kidney
42	chr1:93717200-93719200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:93717200-93726200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:93717400-93719200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr1:93717600-93719200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:93717800-93725600	Strong transcription	Dnd41	blood
47	chr1:93717800-93727800	Weak transcription	Ovary	ovary
48	chr1:93718200-93719200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:93718200-93719200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:93718200-93719400	ZNF genes & repeats	Fetal Intestine Small	intestine

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