Variant report

Variant	rs11849421
Chromosome Location	chr14:105806796-105806797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105804694..105808440-chr14:105810912..105814400,3	K562	blood:
2	chr14:105803948..105806070-chr14:105806076..105808263,2	MCF-7	breast:
3	chr14:105669618..105672409-chr14:105805481..105807820,2	K562	blood:
4	chr14:105801861..105804908-chr14:105805042..105809928,4	K562	blood:
5	chr14:105772029..105773588-chr14:105805773..105807669,2	MCF-7	breast:
6	chr14:105795771..105798760-chr14:105803162..105807544,4	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	0.83[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135362	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141048	1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141334	1.00[JPT][hapmap]
rs10142682	0.88[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10143232	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147378	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]
rs10147674	0.82[ASW][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10148379	1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148455	1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[ASN][1000 genomes]
rs11846567	1.00[JPT][hapmap]
rs11847128	1.00[JPT][hapmap]
rs11847153	1.00[ASN][1000 genomes]
rs12101178	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28378394	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28545538	0.89[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	0.96[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	0.94[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73359035	1.00[ASN][1000 genomes]
rs73359049	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004328	0.88[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[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];0.86[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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105782600-105807400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:105784000-105821800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr14:105793800-105821000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:105797000-105806800	Weak transcription	Aorta	Aorta
5	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:105797200-105810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:105797200-105820800	Weak transcription	NHLF	lung
8	chr14:105797400-105807000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:105797400-105807000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:105797400-105812000	Weak transcription	K562	blood
11	chr14:105797400-105821200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:105798200-105818400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:105798400-105809400	Weak transcription	HepG2	liver
14	chr14:105798800-105807000	Weak transcription	Primary T cells from cord blood	blood
15	chr14:105799000-105806800	Weak transcription	Fetal Thymus	thymus
16	chr14:105799000-105807200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:105799000-105809400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:105799000-105822200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:105799600-105814800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:105799600-105816000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:105799800-105830800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:105800200-105818200	Weak transcription	Stomach Mucosa	stomach
23	chr14:105800800-105818000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:105803000-105807200	Weak transcription	HSMM	muscle
25	chr14:105803000-105807400	Weak transcription	Fetal Brain Male	brain
26	chr14:105803000-105808800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:105803400-105807400	Weak transcription	Fetal Brain Female	brain
28	chr14:105803400-105814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:105803600-105806800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:105803600-105807600	Weak transcription	Brain Germinal Matrix	brain
31	chr14:105803600-105809400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:105803600-105813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:105803600-105815800	Weak transcription	Dnd41	blood
34	chr14:105804200-105814600	Weak transcription	Fetal Intestine Large	intestine
35	chr14:105804600-105807200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:105804600-105810200	Weak transcription	Fetal Intestine Small	intestine
37	chr14:105804600-105814600	Weak transcription	Colonic Mucosa	Colon
38	chr14:105804600-105814600	Weak transcription	Placenta	Placenta
39	chr14:105804600-105821000	Weak transcription	Gastric	stomach
40	chr14:105804600-105829800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr14:105804800-105807000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:105804800-105818400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:105805000-105807000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:105805000-105807000	Weak transcription	HUVEC	blood vessel
45	chr14:105805000-105809400	Weak transcription	Fetal Lung	lung
46	chr14:105805000-105818200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:105805200-105807000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:105805200-105807000	Weak transcription	Adipose Nuclei	Adipose
49	chr14:105805200-105807000	Weak transcription	HSMMtube	muscle
50	chr14:105805200-105809400	Weak transcription	Pancreas	Pancrea

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