Variant report

Variant	rs72706863
Chromosome Location	chr14:97042733-97042734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97033169..97036076-chr14:97041923..97044671,2	MCF-7	breast:
2	chr14:97040818..97044745-chr14:97045778..97050959,6	K562	blood:
3	chr14:97039485..97041409-chr14:97041476..97043217,2	K562	blood:
4	chr14:97040743..97043090-chr14:97045521..97048028,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10145194	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11160342	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11160343	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147170	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12147717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12586332	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12586789	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12589747	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2297243	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28600893	0.81[ASN][1000 genomes]
rs3809425	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56088908	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56254662	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56960368	0.84[AFR][1000 genomes]
rs59323239	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61368673	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7142226	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72706848	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72706852	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72706853	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72706855	0.94[ASN][1000 genomes]
rs72706857	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72706860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72706864	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003976	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[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	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97019600-97042800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:97020400-97042800	Weak transcription	Spleen	Spleen
3	chr14:97023200-97046400	Weak transcription	K562	blood
4	chr14:97023600-97043200	Weak transcription	Right Ventricle	heart
5	chr14:97023800-97043200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:97023800-97044800	Weak transcription	Lung	lung
7	chr14:97023800-97045600	Weak transcription	Fetal Intestine Small	intestine
8	chr14:97023800-97048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:97023800-97050200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:97032200-97043000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:97032200-97047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:97032600-97044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:97033400-97043600	Weak transcription	Placenta	Placenta
14	chr14:97034200-97043000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:97034400-97042800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:97035400-97043000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:97037000-97046600	Weak transcription	Fetal Brain Female	brain
18	chr14:97037000-97047200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:97037000-97047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:97037200-97042800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:97038800-97043200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:97039400-97048600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:97039600-97042800	Weak transcription	Thymus	Thymus
24	chr14:97039800-97043200	Weak transcription	HUVEC	blood vessel
25	chr14:97040000-97043200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:97040000-97049800	Weak transcription	GM12878-XiMat	blood
27	chr14:97040200-97042800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:97040200-97042800	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:97040200-97042800	Weak transcription	Fetal Thymus	thymus
30	chr14:97040200-97043200	Weak transcription	HepG2	liver
31	chr14:97040200-97043600	Weak transcription	Primary B cells from cord blood	blood
32	chr14:97040400-97043400	Weak transcription	Primary T cells from cord blood	blood
33	chr14:97040400-97043800	Weak transcription	Fetal Intestine Large	intestine
34	chr14:97040400-97043800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr14:97040400-97044000	Enhancers	Fetal Heart	heart
36	chr14:97040400-97044800	Weak transcription	A549	lung
37	chr14:97040400-97045600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:97040400-97047400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:97040600-97048200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:97040800-97044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:97040800-97047200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:97041200-97042800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:97041400-97043200	Weak transcription	Psoas Muscle	Psoas
44	chr14:97041400-97044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:97041400-97048200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:97041600-97043400	Weak transcription	Fetal Stomach	stomach
47	chr14:97041600-97046800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:97041800-97042800	Weak transcription	Pancreas	Pancrea
49	chr14:97041800-97043200	Weak transcription	Ovary	ovary
50	chr14:97041800-97045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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