Variant report

Variant	rs62280731
Chromosome Location	chr3:101173625-101173626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:101172654..101174991-chr3:101176520..101178934,3	K562	blood:
2	chr3:101172654..101174991-chr3:101176520..101178922,2	K562	blood:

Variant related genes	Relation type
ENSG00000201554	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10451923	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10511189	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11919906	0.84[ASN][1000 genomes]
rs1520654	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16843627	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16843634	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16843699	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16843817	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2271972	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35902489	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3732893	0.83[EUR][1000 genomes]
rs3773915	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3773917	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3773918	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4260407	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4553955	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280637	0.81[EUR][1000 genomes]
rs62280663	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280664	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280665	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62280669	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62280670	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62280671	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280673	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280674	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280675	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280719	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62280720	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62280721	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62280722	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62280725	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280726	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62280728	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280733	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62280735	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62280737	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280745	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62280746	0.84[ASN][1000 genomes]
rs62280747	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62282871	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62282873	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62282875	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62282885	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62282886	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62282887	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62282888	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62282889	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62282890	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62282892	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6441595	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72487765	0.86[EUR][1000 genomes]
rs72932462	0.83[EUR][1000 genomes]
rs7611378	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7621506	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7622461	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7632064	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7634592	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9790303	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101141000-101185600	Weak transcription	Right Ventricle	heart
2	chr3:101146000-101185600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:101158600-101175200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:101160200-101176200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:101160200-101185600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:101160200-101210800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:101160400-101176000	Weak transcription	Left Ventricle	heart
8	chr3:101160600-101176000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:101160600-101183200	Weak transcription	Psoas Muscle	Psoas
10	chr3:101160600-101184000	Weak transcription	Spleen	Spleen
11	chr3:101160600-101185600	Weak transcription	Gastric	stomach
12	chr3:101161400-101175600	Weak transcription	Fetal Stomach	stomach
13	chr3:101161400-101175600	Weak transcription	Fetal Thymus	thymus
14	chr3:101161400-101176400	Weak transcription	Ovary	ovary
15	chr3:101161400-101176600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:101161400-101183800	Weak transcription	Lung	lung
17	chr3:101161400-101185600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:101161400-101196800	Weak transcription	Thymus	Thymus
19	chr3:101161400-101207600	Weak transcription	Aorta	Aorta
20	chr3:101164400-101175600	Weak transcription	Liver	Liver
21	chr3:101164400-101176000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:101164400-101185400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:101164600-101177400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:101164600-101179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:101165000-101175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:101165000-101176000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:101165000-101176200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr3:101165200-101176200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:101165200-101176200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:101165200-101183200	Weak transcription	Fetal Brain Male	brain
31	chr3:101165400-101176000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:101165400-101177200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:101165400-101185400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:101165600-101183200	Weak transcription	Brain Angular Gyrus	brain
35	chr3:101166000-101179400	Weak transcription	Brain Germinal Matrix	brain
36	chr3:101166200-101176000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:101166200-101176200	Weak transcription	Primary T cells from cord blood	blood
38	chr3:101166400-101175800	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:101166600-101178400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:101167200-101184000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:101167400-101177400	Weak transcription	Fetal Lung	lung
42	chr3:101168000-101183000	Weak transcription	Fetal Intestine Small	intestine
43	chr3:101168200-101174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:101168600-101176400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:101169200-101175800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:101170400-101176200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:101170600-101184000	Weak transcription	Esophagus	oesophagus
48	chr3:101170800-101185600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:101171000-101179800	Weak transcription	Placenta	Placenta
50	chr3:101171000-101185600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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