Variant report

Variant	rs1047330
Chromosome Location	chr3:140697941-140697942
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140688365..140690590-chr3:140697692..140700351,3	K562	blood:
2	chr3:140658522..140661250-chr3:140695108..140698043,2	K562	blood:

Variant related genes	Relation type
ENSG00000114120	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1056126	0.85[ASN][1000 genomes]
rs1056127	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs10935413	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10935414	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1109282	1.00[CHB][hapmap]
rs1109283	1.00[CHB][hapmap]
rs11707116	0.83[ASN][1000 genomes]
rs11710204	0.93[ASN][1000 genomes]
rs11710926	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs11711131	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs11713505	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs11713816	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11714438	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs11715248	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs11717620	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs11718040	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs11718539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11718563	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs11720342	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs12489397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13063450	0.85[EUR][1000 genomes]
rs13099706	0.85[EUR][1000 genomes]
rs1568337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1593623	0.82[EUR][1000 genomes]
rs1593624	0.85[ASN][1000 genomes]
rs16850915	0.83[ASN][1000 genomes]
rs16850917	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs16850921	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs16850924	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs16850926	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs16851001	0.82[EUR][1000 genomes]
rs2081662	0.85[EUR][1000 genomes]
rs2292919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2310859	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2311491	0.85[EUR][1000 genomes]
rs2555702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2555707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2871615	0.94[CHB][hapmap]
rs35140461	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3755764	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs3755765	0.85[ASN][1000 genomes]
rs3773835	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs3773837	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs3773838	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs4068843	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4524250	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4528914	0.84[EUR][1000 genomes]
rs4538351	0.85[EUR][1000 genomes]
rs57151068	0.85[ASN][1000 genomes]
rs57526660	0.85[ASN][1000 genomes]
rs57799705	0.85[ASN][1000 genomes]
rs59128309	0.85[ASN][1000 genomes]
rs59221985	0.85[ASN][1000 genomes]
rs61151473	0.95[ASN][1000 genomes]
rs61629363	0.85[ASN][1000 genomes]
rs61708145	0.85[ASN][1000 genomes]
rs6439962	0.85[ASN][1000 genomes]
rs6439964	0.85[EUR][1000 genomes]
rs6439969	0.82[EUR][1000 genomes]
rs67142314	0.82[EUR][1000 genomes]
rs6764740	0.84[EUR][1000 genomes]
rs6767867	0.84[EUR][1000 genomes]
rs6770562	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6772634	0.85[EUR][1000 genomes]
rs6773249	0.85[EUR][1000 genomes]
rs6785007	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6785892	0.85[EUR][1000 genomes]
rs6788711	0.85[EUR][1000 genomes]
rs6789045	0.84[EUR][1000 genomes]
rs6789116	0.84[EUR][1000 genomes]
rs6789265	0.82[EUR][1000 genomes]
rs6797079	0.85[EUR][1000 genomes]
rs6809144	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6810200	0.85[ASN][1000 genomes]
rs713354	1.00[CEU][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72991046	0.95[ASN][1000 genomes]
rs7621150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7626525	0.83[ASN][1000 genomes]
rs7627987	0.82[EUR][1000 genomes]
rs7631373	0.82[EUR][1000 genomes]
rs7632043	0.83[ASN][1000 genomes]
rs7643287	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7643434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7643614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7644725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7649116	0.84[ASN][1000 genomes]
rs7650179	0.82[EUR][1000 genomes]
rs7650190	0.82[EUR][1000 genomes]
rs7652381	1.00[CEU][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs765990	0.85[EUR][1000 genomes]
rs877142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs957093	0.85[EUR][1000 genomes]
rs9833041	0.82[EUR][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	nsv591865	chr3:140396022-140728850	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140664200-140703800	Weak transcription	Aorta	Aorta
2	chr3:140665400-140698400	Weak transcription	Brain Germinal Matrix	brain
3	chr3:140670600-140698200	Weak transcription	Spleen	Spleen
4	chr3:140672200-140699000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:140672800-140698800	Weak transcription	Right Ventricle	heart
6	chr3:140672800-140700000	Weak transcription	Small Intestine	intestine
7	chr3:140673400-140698800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:140673400-140700200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:140673600-140699000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:140675200-140699000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:140675600-140698200	Weak transcription	Pancreas	Pancrea
12	chr3:140679800-140699000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:140679800-140699600	Weak transcription	Left Ventricle	heart
14	chr3:140680000-140698600	Weak transcription	HSMMtube	muscle
15	chr3:140680000-140699200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:140680000-140699600	Weak transcription	NHEK	skin
17	chr3:140692000-140699000	Strong transcription	HSMM	muscle
18	chr3:140692200-140698000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:140692600-140698600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:140692800-140698200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:140693000-140699800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:140693200-140698600	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:140693200-140698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:140693200-140698800	Strong transcription	Hela-S3	cervix
25	chr3:140693200-140699600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:140694400-140698200	Weak transcription	Ovary	ovary
27	chr3:140694600-140698000	Weak transcription	HepG2	liver
28	chr3:140695400-140698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:140695400-140699200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:140695600-140698400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:140695600-140698600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:140695600-140698600	Weak transcription	Fetal Kidney	kidney
33	chr3:140695600-140699000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:140695600-140699800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:140695600-140700600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:140695800-140698800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr3:140695800-140698800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:140695800-140700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:140695800-140701200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:140696000-140698600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:140696000-140698600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:140696000-140699000	Weak transcription	Placenta	Placenta
43	chr3:140696000-140699600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:140696000-140699600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:140696000-140701000	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:140696000-140702800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:140696200-140698400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:140696200-140698400	Weak transcription	GM12878-XiMat	blood
49	chr3:140696200-140698800	Weak transcription	Dnd41	blood
50	chr3:140696200-140699200	Weak transcription	Brain Anterior Caudate	brain

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