Variant report

Variant	rs10131630
Chromosome Location	chr14:97286105-97286106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97274260..97276872-chr14:97281847..97286316,3	K562	blood:
2	chr14:97263716..97268485-chr14:97284191..97287436,6	K562	blood:
3	chr14:97268802..97270728-chr14:97284735..97287343,2	MCF-7	breast:
4	chr14:97285108..97286873-chr14:97288100..97291000,2	MCF-7	breast:
5	chr14:97278908..97281500-chr14:97284326..97286978,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10131201	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10145383	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146571	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149107	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11160369	0.89[ASN][1000 genomes]
rs11160371	0.88[ASN][1000 genomes]
rs11628733	0.89[ASN][1000 genomes]
rs12433112	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434466	0.88[ASN][1000 genomes]
rs12435963	0.87[ASN][1000 genomes]
rs12590723	0.87[ASN][1000 genomes]
rs12878184	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12882853	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12894621	0.91[ASN][1000 genomes]
rs12897731	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951311	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951312	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1957137	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145636	0.88[ASN][1000 genomes]
rs2180896	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2224442	0.89[ASN][1000 genomes]
rs2230532	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825576	0.89[ASN][1000 genomes]
rs4270096	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900347	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900349	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900350	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4900351	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905546	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905547	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905552	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905553	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905555	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4905557	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4905558	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905560	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4905568	0.82[ASN][1000 genomes]
rs58514314	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61981027	0.97[ASN][1000 genomes]
rs67804110	0.90[ASN][1000 genomes]
rs67957817	0.84[ASN][1000 genomes]
rs7141028	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71419296	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7156355	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs722869	0.89[ASN][1000 genomes]
rs723810	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736929	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8013081	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016614	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9285600	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323954	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323955	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1043916	chr14:97275088-97320354	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
3	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:97265600-97291800	Weak transcription	A549	lung
5	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
6	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:97272400-97293800	Weak transcription	Primary B cells from cord blood	blood
8	chr14:97272800-97287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:97273000-97287200	Weak transcription	HMEC	breast
10	chr14:97278000-97287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:97278200-97287200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:97278400-97287200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:97279600-97289200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:97279600-97289200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:97281200-97286800	Weak transcription	Fetal Brain Male	brain
16	chr14:97281400-97299800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:97282600-97293200	Weak transcription	Dnd41	blood
18	chr14:97282600-97300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:97282800-97301800	Weak transcription	Thymus	Thymus
20	chr14:97283000-97286400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:97283000-97287400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:97283000-97288000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:97283000-97293200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:97283000-97293400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:97283000-97299800	Weak transcription	Fetal Thymus	thymus
26	chr14:97283000-97300800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:97283400-97292200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:97283400-97294200	Weak transcription	Primary T cells from cord blood	blood
29	chr14:97284600-97287200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:97284600-97287200	Weak transcription	NHEK	skin
31	chr14:97284600-97287400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:97284600-97287600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:97284600-97287600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:97284600-97289200	Weak transcription	HepG2	liver
35	chr14:97284600-97289600	Weak transcription	K562	blood
36	chr14:97284600-97290600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:97284600-97291400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:97284600-97299000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:97284600-97313800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:97285400-97286200	Weak transcription	Brain Germinal Matrix	brain
41	chr14:97285400-97290600	Weak transcription	Osteobl	bone
42	chr14:97286000-97286200	Enhancers	Aorta	Aorta
43	chr14:97286000-97286800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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