Variant report

Variant	rs2076354
Chromosome Location	chr1:209801997-209801998
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209800870..209803812-chr1:209809987..209812657,3	K562	blood:
2	chr1:209799563..209802450-chr1:209813916..209816529,2	K562	blood:
3	chr1:209800950..209802731-chr1:209813916..209816295,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12567766	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12568035	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2076351	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2236891	0.84[ASN][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:64 , 50 per page) page: 1 2

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	chr1:209789000-209802800	Strong transcription	Hela-S3	cervix
4	chr1:209792400-209806400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:209794800-209803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:209795200-209804400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:209797800-209803200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:209798000-209805200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:209799400-209806600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:209799600-209803600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:209799800-209802000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:209799800-209814600	Strong transcription	Fetal Intestine Small	intestine
13	chr1:209800000-209813200	Strong transcription	Fetal Intestine Large	intestine
14	chr1:209800600-209805800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:209800800-209803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:209800800-209803200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:209800800-209804200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:209800800-209804800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:209801000-209802200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:209801000-209802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:209801200-209804200	Weak transcription	Fetal Brain Female	brain
22	chr1:209801200-209806400	Weak transcription	HSMM	muscle
23	chr1:209801200-209806600	Weak transcription	Osteobl	bone
24	chr1:209801200-209811600	Weak transcription	Stomach Mucosa	stomach
25	chr1:209801200-209814800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:209801400-209802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:209801400-209802400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:209801400-209802600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:209801400-209802800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:209801400-209802800	Weak transcription	Fetal Heart	heart
31	chr1:209801400-209803000	Weak transcription	Brain Germinal Matrix	brain
32	chr1:209801400-209803200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:209801400-209803600	Weak transcription	Adipose Nuclei	Adipose
34	chr1:209801400-209804000	Weak transcription	Fetal Brain Male	brain
35	chr1:209801400-209805200	Strong transcription	HMEC	breast
36	chr1:209801400-209806600	Weak transcription	NH-A	brain
37	chr1:209801400-209812800	Weak transcription	Pancreas	Pancrea
38	chr1:209801400-209814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:209801600-209802000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:209801600-209802400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:209801600-209802600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:209801600-209803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:209801600-209803000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:209801600-209803000	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:209801600-209803000	Weak transcription	Brain Substantia Nigra	brain
46	chr1:209801600-209803000	Weak transcription	Left Ventricle	heart
47	chr1:209801600-209803000	Weak transcription	Right Ventricle	heart
48	chr1:209801600-209803200	Weak transcription	Brain Angular Gyrus	brain
49	chr1:209801600-209803200	Weak transcription	Brain Anterior Caudate	brain
50	chr1:209801600-209803200	Weak transcription	Gastric	stomach

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