Variant report

Variant	rs327464
Chromosome Location	chr14:81252235-81252236
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81250130..81252518-chr14:81254588..81256726,3	MCF-7	breast:
2	chr14:81249341..81250916-chr14:81251275..81253890,2	MCF-7	breast:
3	chr14:81252167..81254164-chr14:81256810..81258338,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10135084	0.86[GIH][hapmap]
rs10141970	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs10142753	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs11625199	0.92[CEU][hapmap];0.88[CHB][hapmap];0.93[GIH][hapmap]
rs12050342	0.96[CEU][hapmap];0.88[CHB][hapmap]
rs12050416	0.81[GIH][hapmap]
rs12437260	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs162171	0.89[GIH][hapmap]
rs162174	0.88[GIH][hapmap]
rs162178	0.81[JPT][hapmap]
rs170596	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs172909	0.80[AMR][1000 genomes]
rs17615020	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs1863766	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap]
rs2010847	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs228122	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs2288347	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap]
rs2556607	0.88[GIH][hapmap]
rs2556611	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap]
rs28850656	0.88[GIH][hapmap]
rs2888032	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap]
rs327434	0.86[GIH][hapmap]
rs327435	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs327439	0.90[CHB][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs327440	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs327442	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs327443	0.81[JPT][hapmap]
rs327446	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs327457	0.82[CHB][hapmap]
rs327462	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs327463	0.83[CHB][hapmap];0.91[GIH][hapmap]
rs327465	0.89[CHB][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs327470	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs327472	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs327477	0.90[CHB][hapmap];0.80[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs328212	0.82[CHB][hapmap]
rs328213	0.83[CHB][hapmap];0.81[GIH][hapmap]
rs328239	0.89[CHB][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs328258	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs4903949	0.93[CEU][hapmap];0.89[CHB][hapmap]
rs6574608	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[GIH][hapmap]
rs6574609	0.86[GIH][hapmap]
rs6574610	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs7156572	0.86[GIH][hapmap]
rs7157845	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs7158936	0.88[GIH][hapmap]
rs722906	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs7493314	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs768359	0.88[GIH][hapmap]
rs8011273	0.83[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap]
rs8016507	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
5	chr14:81227000-81260800	Weak transcription	NH-A	brain
6	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:81235200-81253600	Weak transcription	HMEC	breast
9	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:81237400-81260600	Weak transcription	Right Ventricle	heart
11	chr14:81237600-81255800	Weak transcription	NHLF	lung
12	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas
13	chr14:81238000-81267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:81239200-81258800	Weak transcription	Adipose Nuclei	Adipose
15	chr14:81239400-81257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:81239400-81260200	Weak transcription	NHEK	skin
17	chr14:81240800-81260800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:81241000-81263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:81242200-81261000	Weak transcription	Liver	Liver
20	chr14:81243800-81259000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:81243800-81261200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr14:81246200-81259000	Weak transcription	Lung	lung
23	chr14:81246800-81271600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:81247200-81252400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:81248000-81255400	Strong transcription	Fetal Thymus	thymus
26	chr14:81248600-81258400	Weak transcription	HSMM	muscle
27	chr14:81248600-81263200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:81249000-81260600	Weak transcription	HUVEC	blood vessel
29	chr14:81249000-81266600	Weak transcription	Primary T cells from cord blood	blood
30	chr14:81249400-81253800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:81249400-81258600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:81249600-81261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:81249800-81261200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:81250200-81259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:81250200-81266600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:81250200-81268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:81250400-81260800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:81250400-81266800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:81251200-81253800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:81251400-81254000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:81251400-81261200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:81251600-81258400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:81251600-81259000	Weak transcription	Left Ventricle	heart
44	chr14:81251600-81259200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:81251600-81259200	Weak transcription	Aorta	Aorta
46	chr14:81251600-81260600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:81251600-81261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:81251800-81253200	Weak transcription	Thymus	Thymus
49	chr14:81251800-81253400	Weak transcription	Dnd41	blood
50	chr14:81251800-81255600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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