Variant report

Variant	rs56960368
Chromosome Location	chr14:97045171-97045172
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	chr14:97043094..97045370-chr14:97047033..97048626,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10136266	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10136277	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139164	0.84[ASN][1000 genomes]
rs10143834	0.81[ASN][1000 genomes]
rs10467873	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11160341	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11160344	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11621566	0.81[ASN][1000 genomes]
rs11621778	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11623142	0.84[ASN][1000 genomes]
rs11627288	0.84[ASN][1000 genomes]
rs11848778	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12147439	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12147717	0.87[AFR][1000 genomes]
rs12586789	0.81[AFR][1000 genomes]
rs13329034	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13379390	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1484251	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17094149	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2274795	0.86[ASN][1000 genomes]
rs28718054	0.86[ASN][1000 genomes]
rs2887550	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4514608	0.86[ASN][1000 genomes]
rs56184178	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58112821	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59323239	0.81[AFR][1000 genomes]
rs61368673	0.81[AFR][1000 genomes]
rs61570427	0.81[ASN][1000 genomes]
rs7142226	0.81[AFR][1000 genomes]
rs7142806	0.86[ASN][1000 genomes]
rs7146883	0.86[ASN][1000 genomes]
rs7160148	0.81[ASN][1000 genomes]
rs72706848	0.81[AFR][1000 genomes]
rs72706852	0.87[AFR][1000 genomes]
rs72706853	0.84[AFR][1000 genomes]
rs72706857	0.87[AFR][1000 genomes]
rs72706860	0.87[AFR][1000 genomes]
rs72706863	0.84[AFR][1000 genomes]
rs72706864	0.93[AFR][1000 genomes]
rs8003976	0.81[AFR][1000 genomes]
rs8013517	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs965950	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3356326	chr14:97044863-97045221	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97023200-97046400	Weak transcription	K562	blood
2	chr14:97023800-97045600	Weak transcription	Fetal Intestine Small	intestine
3	chr14:97023800-97048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:97023800-97050200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:97032200-97047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:97037000-97046600	Weak transcription	Fetal Brain Female	brain
7	chr14:97037000-97047200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:97037000-97047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:97039400-97048600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:97040000-97049800	Weak transcription	GM12878-XiMat	blood
11	chr14:97040400-97045600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:97040400-97047400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:97040600-97048200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:97040800-97047200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:97041400-97048200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:97041600-97046800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:97041800-97046800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:97041800-97047200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:97041800-97047200	Weak transcription	Fetal Lung	lung
20	chr14:97041800-97048400	Weak transcription	Brain Germinal Matrix	brain
21	chr14:97043400-97058800	Weak transcription	Right Atrium	heart
22	chr14:97043600-97047000	Weak transcription	Fetal Thymus	thymus
23	chr14:97043600-97050400	Weak transcription	Right Ventricle	heart
24	chr14:97044000-97047000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr14:97044000-97047000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:97044000-97048400	Weak transcription	Spleen	Spleen
27	chr14:97044400-97046600	Weak transcription	Fetal Brain Male	brain
28	chr14:97044800-97045400	Enhancers	Esophagus	oesophagus
29	chr14:97044800-97045400	Enhancers	Lung	lung
30	chr14:97044800-97048800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:97045000-97045600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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