Variant report

Variant	rs2062437
Chromosome Location	chr4:147205438-147205439
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	chr4:147204351..147205909-chr4:147214280..147217001,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10022940	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212747	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1030777	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10519783	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11100922	0.83[AMR][1000 genomes]
rs12711434	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13109522	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13117626	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13140054	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143634	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1485953	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17828118	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960018	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991978	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062438	0.83[AMR][1000 genomes]
rs2163170	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4103543	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4835291	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537411	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6537414	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6813017	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6844812	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6849067	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7661938	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7693289	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923166	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs962628	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9991483	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3332743	chr4:147204602-147209500	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3425492	chr4:147204802-147209400	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3429202	chr4:147205102-147209400	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
2	chr4:147165000-147207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:147165200-147207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
6	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
7	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:147167400-147209000	Weak transcription	Ovary	ovary
9	chr4:147174200-147206800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:147175800-147206800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:147176800-147207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:147178200-147207800	Weak transcription	Primary B cells from cord blood	blood
18	chr4:147179000-147207200	Weak transcription	Fetal Stomach	stomach
19	chr4:147179200-147206800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:147179200-147207200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:147179400-147206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
23	chr4:147179600-147214200	Weak transcription	Dnd41	blood
24	chr4:147180400-147206600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:147180400-147233200	Weak transcription	Liver	Liver
26	chr4:147180600-147208200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:147182600-147207200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:147184000-147206800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:147184000-147207200	Weak transcription	Lung	lung
30	chr4:147184600-147207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:147186600-147212800	Weak transcription	Psoas Muscle	Psoas
32	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:147189200-147207600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:147193400-147206400	Weak transcription	Primary T cells from cord blood	blood
35	chr4:147194600-147207200	Weak transcription	Esophagus	oesophagus
36	chr4:147197200-147207200	Weak transcription	Pancreas	Pancrea
37	chr4:147197400-147206200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:147197400-147213200	Weak transcription	K562	blood
39	chr4:147197600-147207200	Weak transcription	Fetal Intestine Large	intestine
40	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
41	chr4:147200600-147206600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:147200800-147207400	Weak transcription	Fetal Kidney	kidney
43	chr4:147201000-147207200	Weak transcription	Fetal Lung	lung
44	chr4:147201000-147224800	Weak transcription	HMEC	breast
45	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:147201600-147209600	Weak transcription	NH-A	brain
48	chr4:147201600-147214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr4:147203600-147206800	Weak transcription	Spleen	Spleen
50	chr4:147204000-147220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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