Variant report

Variant	rs10147378
Chromosome Location	chr14:105809536-105809537
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105801861..105804994-chr14:105807057..105810867,3	K562	blood:
2	chr14:105798156..105801052-chr14:105809426..105811006,2	MCF-7	breast:
3	chr14:105770409..105772942-chr14:105807785..105809717,2	MCF-7	breast:
4	chr14:105801861..105804908-chr14:105805042..105809928,4	K562	blood:

Variant related genes	Relation type
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10132353	1.00[JPT][hapmap]
rs10132438	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135362	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141048	1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141334	1.00[JPT][hapmap]
rs10142682	1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10143232	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147674	1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10148379	1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148455	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11846567	1.00[JPT][hapmap]
rs11847128	1.00[JPT][hapmap]
rs11847153	1.00[ASN][1000 genomes]
rs11849421	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101178	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28378394	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28545538	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28569215	1.00[ASN][1000 genomes]
rs4074004	1.00[JPT][hapmap]
rs4076933	1.00[JPT][hapmap]
rs4983411	1.00[JPT][hapmap]
rs57000673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229884	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58816330	0.83[ASN][1000 genomes]
rs59143495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60545468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576084	0.83[ASN][1000 genomes]
rs7144362	1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161158	1.00[JPT][hapmap]
rs73357391	1.00[ASN][1000 genomes]
rs73359015	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359017	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359022	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73359035	1.00[ASN][1000 genomes]
rs73359049	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004328	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs8008801	1.00[JPT][hapmap]
rs8010649	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8010888	1.00[JPT][hapmap]
rs8016693	1.00[JPT][hapmap]
rs8021520	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671295	1.00[JPT][hapmap]
rs9671782	0.83[ASN][1000 genomes]
rs9671890	1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]

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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105784000-105821800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:105793800-105821000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:105797200-105810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:105797200-105820800	Weak transcription	NHLF	lung
6	chr14:105797400-105812000	Weak transcription	K562	blood
7	chr14:105797400-105821200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:105798200-105818400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:105799000-105822200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:105799600-105814800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:105799600-105816000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:105799800-105830800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:105800200-105818200	Weak transcription	Stomach Mucosa	stomach
14	chr14:105800800-105818000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:105803400-105814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:105803600-105813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:105803600-105815800	Weak transcription	Dnd41	blood
18	chr14:105804200-105814600	Weak transcription	Fetal Intestine Large	intestine
19	chr14:105804600-105810200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:105804600-105814600	Weak transcription	Colonic Mucosa	Colon
21	chr14:105804600-105814600	Weak transcription	Placenta	Placenta
22	chr14:105804600-105821000	Weak transcription	Gastric	stomach
23	chr14:105804600-105829800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:105804800-105818400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:105805000-105818200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:105805200-105812600	Weak transcription	Esophagus	oesophagus
27	chr14:105805400-105811800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:105806400-105810000	Enhancers	Brain Angular Gyrus	brain
29	chr14:105806400-105810200	Enhancers	Brain Substantia Nigra	brain
30	chr14:105806800-105810000	Enhancers	Brain Anterior Caudate	brain
31	chr14:105806800-105810200	Enhancers	Fetal Muscle Trunk	muscle
32	chr14:105807000-105810400	Enhancers	Fetal Muscle Leg	muscle
33	chr14:105807200-105814800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:105807400-105809800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:105807400-105812000	Weak transcription	Ovary	ovary
36	chr14:105807400-105830800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:105807400-105833600	Weak transcription	Aorta	Aorta
38	chr14:105807600-105815800	Weak transcription	Primary T cells from cord blood	blood
39	chr14:105807600-105818400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:105807800-105810000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:105807800-105814600	Weak transcription	Fetal Brain Female	brain
42	chr14:105807800-105818400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:105808000-105815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:105808400-105809600	Weak transcription	NH-A	brain
45	chr14:105808400-105810000	Enhancers	Brain Cingulate Gyrus	brain
46	chr14:105808400-105810200	Enhancers	Brain Hippocampus Middle	brain
47	chr14:105808400-105812200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:105808400-105813600	Weak transcription	Adipose Nuclei	Adipose
49	chr14:105808400-105814600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:105808400-105815800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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