Variant report

Variant	rs6714101
Chromosome Location	chr2:64553782-64553783
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	chr2:64488474..64490275-chr2:64553073..64555333,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10187442	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1030407	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1030409	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1030410	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11125996	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11673882	0.83[ASN][1000 genomes]
rs11682772	0.83[ASN][1000 genomes]
rs11683866	0.80[ASN][1000 genomes]
rs11883600	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365474	0.83[ASN][1000 genomes]
rs1365475	0.82[ASN][1000 genomes]
rs1365476	0.80[ASN][1000 genomes]
rs1426699	0.80[ASN][1000 genomes]
rs1426701	0.80[ASN][1000 genomes]
rs1426703	0.81[ASN][1000 genomes]
rs1426712	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1974976	0.82[ASN][1000 genomes]
rs2059630	0.80[ASN][1000 genomes]
rs2263647	0.90[ASN][1000 genomes]
rs2278183	0.80[ASN][1000 genomes]
rs2278184	0.87[ASN][1000 genomes]
rs2555423	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2555448	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4485554	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4597511	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546064	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546065	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6758664	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7561343	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7565077	0.86[ASN][1000 genomes]
rs7585084	0.83[ASN][1000 genomes]
rs7601758	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7601803	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs890478	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs919122	0.82[ASN][1000 genomes]
rs919123	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919124	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919125	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs919126	0.83[ASN][1000 genomes]
rs919127	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930020	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64540000-64554200	Weak transcription	Fetal Brain Female	brain
2	chr2:64540200-64554600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:64540800-64554600	Weak transcription	Right Atrium	heart
4	chr2:64549200-64555800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:64549400-64555200	Weak transcription	Placenta	Placenta
6	chr2:64549600-64554400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:64549800-64555000	Weak transcription	Fetal Lung	lung
8	chr2:64550400-64554400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:64550600-64554600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:64550800-64554400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:64551200-64554200	Weak transcription	Esophagus	oesophagus
12	chr2:64551800-64554400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:64552000-64554600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:64552000-64554600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:64552000-64554600	Enhancers	Thymus	Thymus
16	chr2:64552000-64555800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:64552600-64553800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:64552600-64554400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:64552600-64554600	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:64552600-64555600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:64552600-64555800	Enhancers	Fetal Thymus	thymus
22	chr2:64552800-64553800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:64552800-64554600	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:64552800-64560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:64553000-64553800	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr2:64553000-64553800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr2:64553000-64554000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:64553200-64554400	Enhancers	Brain Anterior Caudate	brain
29	chr2:64553200-64554400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:64553200-64554400	Weak transcription	Small Intestine	intestine
31	chr2:64553200-64554600	Weak transcription	Primary B cells from cord blood	blood
32	chr2:64553200-64554600	Weak transcription	Spleen	Spleen
33	chr2:64553200-64555600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:64553200-64557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:64553400-64553800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr2:64553400-64554000	Flanking Active TSS	GM12878-XiMat	blood
37	chr2:64553400-64554800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:64553400-64555800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:64553400-64558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:64553600-64554400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:64553600-64554600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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