Variant report

Variant	rs2163170
Chromosome Location	chr4:147186734-147186735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147185424..147187458-chr4:147202826..147204441,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10022940	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10212747	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1030777	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10519783	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11100922	0.81[AMR][1000 genomes]
rs12711434	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13109522	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13117626	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13140054	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13143634	0.83[AMR][1000 genomes]
rs1485953	0.83[AMR][1000 genomes]
rs17828118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1960018	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1991978	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062437	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062438	0.81[AMR][1000 genomes]
rs4103543	0.83[AMR][1000 genomes]
rs4835291	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537411	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6537414	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6813017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6844812	0.85[AMR][1000 genomes]
rs6849067	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7661938	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7693289	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs923166	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs962628	0.83[AMR][1000 genomes]
rs9991483	0.83[AMR][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	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

No data

Chromatin state (count:59 , 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	chr4:147166800-147187200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:147166800-147190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
8	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
9	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:147167400-147209000	Weak transcription	Ovary	ovary
11	chr4:147167800-147188600	Weak transcription	Pancreas	Pancrea
12	chr4:147170000-147196400	Weak transcription	Fetal Intestine Small	intestine
13	chr4:147174200-147206800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:147175000-147196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:147175800-147206800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:147176800-147207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:147177600-147187400	Weak transcription	Fetal Brain Female	brain
23	chr4:147177800-147188200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:147178000-147195800	Weak transcription	NH-A	brain
25	chr4:147178000-147200400	Weak transcription	Fetal Lung	lung
26	chr4:147178200-147189200	Weak transcription	HSMM	muscle
27	chr4:147178200-147207800	Weak transcription	Primary B cells from cord blood	blood
28	chr4:147179000-147207200	Weak transcription	Fetal Stomach	stomach
29	chr4:147179200-147190800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:147179200-147206800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:147179200-147207200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:147179400-147205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:147179400-147206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
35	chr4:147179600-147214200	Weak transcription	Dnd41	blood
36	chr4:147180000-147188200	Weak transcription	Adipose Nuclei	Adipose
37	chr4:147180200-147196400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:147180400-147206600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:147180400-147233200	Weak transcription	Liver	Liver
40	chr4:147180600-147208200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:147182200-147187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:147182400-147188400	Weak transcription	GM12878-XiMat	blood
43	chr4:147182600-147207200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:147182800-147191600	Weak transcription	Gastric	stomach
45	chr4:147182800-147196400	Weak transcription	Stomach Mucosa	stomach
46	chr4:147184000-147206800	Weak transcription	Fetal Muscle Leg	muscle
47	chr4:147184000-147207200	Weak transcription	Lung	lung
48	chr4:147184200-147188600	Weak transcription	Primary T cells from cord blood	blood
49	chr4:147184600-147187600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:147184600-147204200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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