Variant report

Variant	rs6718986
Chromosome Location	chr2:30839026-30839027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30460198..30462584-chr2:30837486..30839510,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1252651	1.00[YRI][hapmap]
rs17009647	1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17009802	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs17009815	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs57890362	1.00[AMR][1000 genomes]
rs58730941	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59120669	1.00[AMR][1000 genomes]
rs59228351	0.98[AFR][1000 genomes];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[AMR][1000 genomes]
rs6728039	1.00[MEX][hapmap]
rs6738751	0.92[AFR][1000 genomes]
rs6747522	0.81[AFR][1000 genomes]
rs6761612	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	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72863005	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72863019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863027	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863050	0.92[AFR][1000 genomes]
rs72863089	0.81[AFR][1000 genomes]
rs72863091	0.81[AFR][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:4 , 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
2	esv1826356	chr2:30809843-30841108	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1003432	chr2:30814986-30849343	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762445	chr2:30814998-30849343	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:30811600-30863000	Weak transcription	Ovary	ovary
7	chr2:30825800-30844200	Weak transcription	Fetal Thymus	thymus
8	chr2:30831000-30844800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:30831600-30844800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:30831600-30852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:30832000-30848600	Weak transcription	K562	blood
13	chr2:30832800-30844200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:30834600-30844600	Weak transcription	Right Ventricle	heart
15	chr2:30834600-30844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
17	chr2:30834800-30844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:30834800-30849400	Weak transcription	Pancreas	Pancrea
19	chr2:30835600-30844600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:30835600-30844800	Weak transcription	Fetal Lung	lung
21	chr2:30835600-30851200	Weak transcription	HSMMtube	muscle
22	chr2:30835800-30839800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:30835800-30844400	Weak transcription	Primary B cells from cord blood	blood
24	chr2:30835800-30844400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:30835800-30844600	Weak transcription	Fetal Stomach	stomach
26	chr2:30835800-30848800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
28	chr2:30836000-30844000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:30836000-30844400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:30836000-30845600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:30836000-30848200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:30836000-30854000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:30836000-30855200	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:30836200-30844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:30836200-30844200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:30836400-30844400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:30836400-30845000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:30837000-30839400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:30837000-30839400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:30837600-30863000	Weak transcription	HepG2	liver
41	chr2:30838000-30844200	Weak transcription	Left Ventricle	heart
42	chr2:30838000-30844600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:30838200-30844400	Weak transcription	A549	lung
44	chr2:30838400-30839200	Flanking Active TSS	Fetal Heart	heart
45	chr2:30838400-30843000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:30838400-30844000	Weak transcription	Primary T cells from cord blood	blood
47	chr2:30838400-30850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:30839000-30839400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:30839000-30854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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