Variant report

Variant	rs6726940
Chromosome Location	chr2:73213581-73213582
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73211750..73213775-chr2:73388191..73390980,2	K562	blood:
2	chr2:73206471..73208631-chr2:73211515..73214003,2	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10166058	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10166220	0.94[CEU][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10167566	0.87[JPT][hapmap]
rs10174548	0.82[JPT][hapmap]
rs10176939	0.94[CEU][hapmap];0.96[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10177159	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10178854	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10178944	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10180720	0.87[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs10180995	0.86[JPT][hapmap]
rs10189744	0.94[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10190861	0.83[CEU][hapmap];0.87[JPT][hapmap]
rs10191665	0.96[EUR][1000 genomes]
rs10192077	0.94[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs10197305	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10209859	0.94[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1036512	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12233055	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12621323	0.91[CHB][hapmap]
rs13385994	0.81[EUR][1000 genomes]
rs13388404	1.00[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13390072	0.81[EUR][1000 genomes]
rs13400920	0.81[JPT][hapmap]
rs13403757	0.82[JPT][hapmap]
rs13403781	0.82[JPT][hapmap]
rs13424057	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1370383	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1430349	0.81[JPT][hapmap]
rs17008571	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17008611	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17008631	0.88[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs1864488	0.81[JPT][hapmap]
rs1992133	0.80[JPT][hapmap]
rs2421098	0.91[JPT][hapmap]
rs3813222	0.86[JPT][hapmap]
rs3901273	0.82[JPT][hapmap]
rs4144837	0.89[CEU][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs4514897	0.91[JPT][hapmap]
rs4527230	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55974516	0.93[EUR][1000 genomes]
rs57536428	0.81[EUR][1000 genomes]
rs57937746	0.81[EUR][1000 genomes]
rs58993488	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61161134	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61650913	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62147721	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62147724	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62147732	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6546794	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546796	1.00[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs6546797	1.00[CEU][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs6546800	0.82[JPT][hapmap]
rs6709938	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710739	0.87[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs6711891	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs6713655	0.81[EUR][1000 genomes]
rs6717553	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6719333	0.94[CEU][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6727269	0.81[EUR][1000 genomes]
rs6727919	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs6729266	0.81[JPT][hapmap]
rs6732369	1.00[CEU][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes]
rs6736153	0.81[JPT][hapmap]
rs6749237	0.86[JPT][hapmap]
rs6750069	0.94[CEU][hapmap];0.96[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6754779	0.81[EUR][1000 genomes]
rs6754858	0.81[EUR][1000 genomes]
rs6757131	0.94[CEU][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6759243	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6759733	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727470	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs732178	0.94[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs732179	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs732180	0.94[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7557173	0.81[JPT][hapmap]
rs7559340	0.80[JPT][hapmap]
rs7566904	0.87[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs7570876	1.00[CEU][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7578757	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7579770	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7580216	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7597032	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7602651	0.81[JPT][hapmap]
rs891432	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs891433	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs893258	0.86[CHB][hapmap];0.96[JPT][hapmap];0.92[ASN][1000 genomes]
rs893259	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9309467	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73168800-73226800	Weak transcription	NHLF	lung
2	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:73177400-73215200	Weak transcription	Osteobl	bone
4	chr2:73178000-73214800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:73181800-73215200	Weak transcription	Thymus	Thymus
6	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:73185000-73214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:73193600-73221200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:73198600-73220000	Weak transcription	Small Intestine	intestine
12	chr2:73203200-73218400	Weak transcription	Brain Germinal Matrix	brain
13	chr2:73207200-73213600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:73207200-73214200	Enhancers	Left Ventricle	heart
15	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:73208000-73215000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:73208000-73215200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
19	chr2:73208200-73217000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:73208200-73218000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:73208200-73227000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:73208400-73217200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:73208400-73227400	Weak transcription	A549	lung
24	chr2:73208400-73227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:73208600-73217200	Weak transcription	NHEK	skin
26	chr2:73208600-73217800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:73208600-73227200	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:73209000-73227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:73209000-73227200	Weak transcription	HSMM	muscle
30	chr2:73209400-73218800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:73209400-73219200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:73209600-73214000	Enhancers	Right Atrium	heart
33	chr2:73209600-73214200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:73209600-73214400	Enhancers	Liver	Liver
35	chr2:73209600-73215000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:73209600-73217000	Weak transcription	HMEC	breast
37	chr2:73209600-73217200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr2:73209600-73217600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:73209600-73219600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:73209800-73214000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:73210000-73213800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:73210000-73213800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:73210000-73214000	Enhancers	Right Ventricle	heart
44	chr2:73210000-73215200	Enhancers	Placenta	Placenta
45	chr2:73210000-73217400	Strong transcription	Fetal Stomach	stomach
46	chr2:73210200-73213800	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:73210200-73217000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:73210400-73213800	Enhancers	Gastric	stomach
49	chr2:73210400-73227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:73210600-73213800	Enhancers	Pancreas	Pancrea

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