Variant report

Variant	rs11627288
Chromosome Location	chr14:96979452-96979453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:96967194..96972735-chr14:96975570..96985371,13	K562	blood:
2	chr14:96975313..96976857-chr14:96978601..96981439,2	MCF-7	breast:
3	chr14:96977217..96979586-chr14:96982926..96984761,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090060	Chromatin interaction
ENSG00000260806	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10136266	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10136277	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10139164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10140247	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143834	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144704	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10467873	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11160341	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11160344	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11621566	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11621778	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11623142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625090	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11848720	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11848778	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12147439	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13329034	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13379390	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1484251	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17094149	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274795	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28718054	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28738720	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2887550	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4514608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56184178	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56960368	0.84[ASN][1000 genomes]
rs58112821	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60920648	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61435932	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61570427	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66881740	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7142806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7146883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7160148	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8013517	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs965950	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[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	nsv482589	chr14:96805418-96985830	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv902211	chr14:96864309-96986153	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv1802671	chr14:96942352-97035680	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv1052499	chr14:96974524-97034805	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96970000-96979600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:96970000-96984600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:96970000-96987000	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:96970600-96982200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:96970600-96984400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:96970600-96987800	Weak transcription	Fetal Stomach	stomach
7	chr14:96970600-96990600	Weak transcription	NH-A	brain
8	chr14:96970600-96991200	Weak transcription	Fetal Kidney	kidney
9	chr14:96970800-96982000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr14:96970800-96987400	Weak transcription	HSMM	muscle
11	chr14:96970800-96988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:96971200-96981200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:96971200-96987400	Weak transcription	Osteobl	bone
14	chr14:96971600-96989800	Weak transcription	NHLF	lung
15	chr14:96971800-96980600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:96971800-96990800	Weak transcription	HMEC	breast
17	chr14:96971800-96991000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:96972000-96984800	Enhancers	Primary T cells from cord blood	blood
19	chr14:96972200-96984200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:96972200-96986400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:96972200-96986600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:96972200-96987800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:96972200-96988200	Weak transcription	Colonic Mucosa	Colon
24	chr14:96972400-96981200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:96972400-96986200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:96972400-96986600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr14:96972400-96987800	Weak transcription	Esophagus	oesophagus
28	chr14:96972400-96987800	Weak transcription	Spleen	Spleen
29	chr14:96973400-96986600	Weak transcription	Fetal Thymus	thymus
30	chr14:96973600-96980800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr14:96974000-96979800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:96974000-96984800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr14:96974200-96981400	Enhancers	HepG2	liver
34	chr14:96974400-96985000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr14:96974600-96987800	Weak transcription	Gastric	stomach
36	chr14:96974600-96987800	Weak transcription	Lung	lung
37	chr14:96975000-96981400	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:96975000-96982000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:96975000-96992400	Weak transcription	K562	blood
40	chr14:96975200-96981000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:96975400-96980200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:96975400-96982400	Enhancers	A549	lung
43	chr14:96975400-96989200	Weak transcription	Hela-S3	cervix
44	chr14:96975600-96980800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:96975600-96982000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:96975600-96985400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:96975600-96986400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:96975600-96987800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:96975600-96992200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:96976000-96979800	Enhancers	Small Intestine	intestine

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