Variant report

Variant	rs4902470
Chromosome Location	chr14:39768669-39768670
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	chr14:39653217..39654997-chr14:39768154..39769847,2	K562	blood:
2	chr14:39763084..39765244-chr14:39767699..39769276,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1040810	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10872920	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11157053	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11157054	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11157057	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11157059	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11621330	0.81[EUR][1000 genomes]
rs12432397	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12897272	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1570132	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1950952	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082635	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28619058	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4899227	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4902528	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62000670	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6571915	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6571919	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003117	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8009651	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8018717	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9322998	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs956109	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv977461	chr14:39762414-39770640	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
3	chr14:39746200-39776600	Weak transcription	K562	blood
4	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
5	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:39749600-39771200	Weak transcription	Fetal Kidney	kidney
7	chr14:39752600-39769000	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
9	chr14:39755400-39775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:39755400-39783400	Strong transcription	Liver	Liver
11	chr14:39755600-39780400	Strong transcription	HepG2	liver
12	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:39756200-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
16	chr14:39756400-39773200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:39756400-39774000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:39756800-39771200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:39757000-39783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:39757200-39773800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:39757400-39771200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:39759400-39770200	Weak transcription	Colonic Mucosa	Colon
27	chr14:39759400-39801800	Weak transcription	NHLF	lung
28	chr14:39760000-39775800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:39760800-39771200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:39761000-39775200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr14:39761600-39773400	Strong transcription	Fetal Intestine Large	intestine
32	chr14:39761800-39771800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr14:39762200-39774200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
35	chr14:39762600-39772600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:39762600-39774400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:39763200-39772200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:39763400-39769600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:39763400-39770600	Strong transcription	Fetal Intestine Small	intestine
40	chr14:39763400-39771600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:39763400-39772200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:39763400-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:39763600-39770600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:39763800-39772200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr14:39763800-39772600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:39764000-39786200	Weak transcription	Brain Substantia Nigra	brain
47	chr14:39764400-39785400	Weak transcription	Esophagus	oesophagus
48	chr14:39764600-39770600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:39764600-39771800	Weak transcription	HSMMtube	muscle
50	chr14:39764600-39785600	Weak transcription	Gastric	stomach

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