Variant report

Variant	rs6761612
Chromosome Location	chr2:30723225-30723226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30721513..30724464-chr2:30730002..30732405,2	K562	blood:
2	chr2:30675011..30677144-chr2:30720980..30723832,2	K562	blood:
3	chr2:30719917..30724610-chr2:30726684..30729828,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1252651	0.93[YRI][hapmap]
rs17009647	1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17009802	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs17009815	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs57890362	1.00[AMR][1000 genomes]
rs58730941	1.00[AMR][1000 genomes]
rs59120669	1.00[AMR][1000 genomes]
rs59228351	1.00[AMR][1000 genomes]
rs59450374	1.00[AMR][1000 genomes]
rs60821673	0.87[AMR][1000 genomes]
rs60847386	1.00[AMR][1000 genomes]
rs61006780	0.85[AMR][1000 genomes]
rs61232451	1.00[AMR][1000 genomes]
rs6714637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6718986	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs72856691	1.00[AMR][1000 genomes]
rs72858915	1.00[AMR][1000 genomes]
rs72858918	1.00[AMR][1000 genomes]
rs72858941	1.00[AMR][1000 genomes]
rs72858988	1.00[AMR][1000 genomes]
rs72858990	0.85[AMR][1000 genomes]
rs72863005	0.85[AMR][1000 genomes]
rs72863019	1.00[AMR][1000 genomes]
rs72863027	1.00[AMR][1000 genomes]
rs7557310	0.87[AMR][1000 genomes]
rs7578150	0.87[AMR][1000 genomes]
rs829653	1.00[YRI][hapmap]
rs829664	1.00[YRI][hapmap]
rs866680	1.00[YRI][hapmap]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30711600-30723600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:30714400-30723600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:30715600-30723800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:30715600-30732800	Weak transcription	Hela-S3	cervix
5	chr2:30716000-30723800	Weak transcription	Ovary	ovary
6	chr2:30716000-30726000	Weak transcription	Aorta	Aorta
7	chr2:30716000-30727600	Weak transcription	Small Intestine	intestine
8	chr2:30716000-30728000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:30716200-30726400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:30716200-30726600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:30716600-30723800	Weak transcription	Right Ventricle	heart
12	chr2:30718400-30724600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr2:30719800-30723800	Weak transcription	Left Ventricle	heart
14	chr2:30720400-30724200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr2:30720600-30724400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
16	chr2:30721200-30723600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:30721200-30723800	Weak transcription	Thymus	Thymus
18	chr2:30721200-30727400	Weak transcription	NHLF	lung
19	chr2:30721400-30723400	Weak transcription	A549	lung
20	chr2:30721400-30728400	Weak transcription	Liver	Liver
21	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:30721600-30723600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:30722000-30727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:30722200-30725800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:30722400-30723800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:30722800-30724200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:30722800-30724600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:30723000-30723400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:30723000-30724600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:30723200-30723400	Enhancers	Fetal Lung	lung
31	chr2:30723200-30724000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:30723200-30724200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr2:30723200-30725600	ZNF genes & repeats	Primary B cells from cord blood	blood

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