Variant report

Variant	rs11950000
Chromosome Location	chr5:14404596-14404597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14399431..14402316-chr5:14403363..14405249,2	K562	blood:
2	chr5:13976900..13977474-chr5:14404551..14405480,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10866506	0.89[EUR][1000 genomes]
rs10866507	0.89[EUR][1000 genomes]
rs11949756	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11959397	0.89[EUR][1000 genomes]
rs12109453	0.91[EUR][1000 genomes]
rs12109756	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12109880	0.89[EUR][1000 genomes]
rs12110161	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12110267	0.89[EUR][1000 genomes]
rs16903421	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16903423	0.89[EUR][1000 genomes]
rs16903428	0.89[EUR][1000 genomes]
rs16903434	0.89[EUR][1000 genomes]
rs16903453	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16903460	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16903464	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16903509	0.89[EUR][1000 genomes]
rs2463803	0.85[CEU][hapmap]
rs28416767	0.89[EUR][1000 genomes]
rs28482202	0.89[EUR][1000 genomes]
rs28548493	0.89[EUR][1000 genomes]
rs35373258	0.91[EUR][1000 genomes]
rs56689214	0.91[EUR][1000 genomes]
rs57017859	0.89[EUR][1000 genomes]
rs57640930	1.00[EUR][1000 genomes]
rs58260094	0.89[EUR][1000 genomes]
rs59405120	0.89[EUR][1000 genomes]
rs60738268	0.89[EUR][1000 genomes]
rs60892841	0.84[EUR][1000 genomes]
rs61059406	0.89[EUR][1000 genomes]
rs61469842	0.84[EUR][1000 genomes]
rs62344979	0.89[EUR][1000 genomes]
rs62344981	0.86[EUR][1000 genomes]
rs62344983	0.89[EUR][1000 genomes]
rs62345009	0.84[EUR][1000 genomes]
rs62345012	0.89[EUR][1000 genomes]
rs62345015	0.91[EUR][1000 genomes]
rs62345048	0.89[EUR][1000 genomes]
rs66554336	0.89[EUR][1000 genomes]
rs697559	0.82[CEU][hapmap]
rs73061636	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7706484	0.89[EUR][1000 genomes]
rs7715916	0.91[EUR][1000 genomes]
rs773764	0.82[CEU][hapmap]
rs773765	0.82[CEU][hapmap]
rs773766	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3401381	chr5:14402002-14404800	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv14037	chr5:14403047-14404719	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
2	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:14387200-14405800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:14388800-14407200	Weak transcription	Small Intestine	intestine
6	chr5:14392200-14406600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:14392400-14406000	Weak transcription	Fetal Heart	heart
8	chr5:14392400-14426800	Weak transcription	Psoas Muscle	Psoas
9	chr5:14393600-14413600	Strong transcription	Primary B cells from cord blood	blood
10	chr5:14394400-14405200	Strong transcription	Fetal Intestine Small	intestine
11	chr5:14395200-14406600	Weak transcription	Fetal Kidney	kidney
12	chr5:14395800-14406000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:14395800-14406000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:14397400-14405400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:14397600-14405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:14397600-14405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:14397600-14406200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:14398200-14406000	Weak transcription	Thymus	Thymus
19	chr5:14398400-14404800	Weak transcription	Ovary	ovary
20	chr5:14398400-14406000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:14398600-14405200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:14398600-14405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:14398600-14406000	Weak transcription	Esophagus	oesophagus
24	chr5:14398800-14406200	Weak transcription	Aorta	Aorta
25	chr5:14399000-14419800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:14399600-14416400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:14400200-14413400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:14400400-14405400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:14400400-14406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:14400600-14415000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:14400800-14408600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:14400800-14416000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:14401000-14404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:14401000-14405400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:14401000-14406600	Weak transcription	Left Ventricle	heart
36	chr5:14401200-14405200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:14401200-14405400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:14401200-14406200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:14401200-14407400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:14401400-14405800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr5:14401400-14406200	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:14401400-14406600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:14401600-14406000	Weak transcription	Colonic Mucosa	Colon
44	chr5:14401600-14407400	Strong transcription	Fetal Muscle Leg	muscle
45	chr5:14401800-14404800	Weak transcription	Fetal Brain Female	brain
46	chr5:14401800-14405800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:14401800-14407200	Weak transcription	Fetal Brain Male	brain
48	chr5:14402000-14404800	Weak transcription	HUVEC	blood vessel
49	chr5:14402000-14406000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:14402000-14406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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