Variant report

Variant	rs12185014
Chromosome Location	chr14:39849875-39849876
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	chr14:39837819..39839330-chr14:39849580..39852012,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10130181	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10132190	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10134065	0.95[ASN][1000 genomes]
rs10142029	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10144377	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10145757	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10146106	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146622	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10220689	0.81[AMR][1000 genomes]
rs10483538	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12433987	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17109168	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17622868	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2103795	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2179973	0.88[ASN][1000 genomes]
rs28398804	0.88[ASN][1000 genomes]
rs28419351	0.88[ASN][1000 genomes]
rs28454173	0.88[ASN][1000 genomes]
rs28568594	0.88[ASN][1000 genomes]
rs28571663	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28704775	0.88[ASN][1000 genomes]
rs28756493	0.85[EUR][1000 genomes]
rs28871954	0.88[ASN][1000 genomes]
rs2899887	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4316662	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902559	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61999073	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61999077	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61999079	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs62000686	0.82[EUR][1000 genomes]
rs62000696	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62000708	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62000709	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62000710	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62000711	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62000715	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62000720	0.89[ASN][1000 genomes]
rs62001106	0.88[ASN][1000 genomes]
rs7146753	0.88[ASN][1000 genomes]
rs7156962	0.95[ASN][1000 genomes]
rs7158282	0.95[ASN][1000 genomes]
rs8006076	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8007036	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9322999	0.95[ASN][1000 genomes]
rs9805937	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
2	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
3	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:39834000-39851600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:39834600-39851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr14:39835000-39851600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:39835200-39851600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:39835400-39851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:39835400-39872400	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:39836200-39872800	Weak transcription	Esophagus	oesophagus
11	chr14:39836400-39870600	Weak transcription	Gastric	stomach
12	chr14:39836600-39852600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:39837000-39852600	Weak transcription	Primary T cells from cord blood	blood
14	chr14:39837800-39851600	Weak transcription	Dnd41	blood
15	chr14:39838600-39850800	Weak transcription	Fetal Thymus	thymus
16	chr14:39839800-39850000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:39840000-39850400	Weak transcription	Aorta	Aorta
18	chr14:39840000-39851600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:39840000-39852600	Weak transcription	Thymus	Thymus
20	chr14:39840000-39855000	Weak transcription	Fetal Stomach	stomach
21	chr14:39840000-39856000	Weak transcription	Fetal Intestine Small	intestine
22	chr14:39840000-39863200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:39840000-39863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:39840000-39864000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:39840000-39867000	Weak transcription	Left Ventricle	heart
26	chr14:39840000-39867400	Weak transcription	Pancreas	Pancrea
27	chr14:39840000-39882600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:39840200-39850800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:39840200-39851600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:39840200-39852200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:39840200-39867200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:39840600-39864400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:39841000-39865800	Weak transcription	Primary B cells from cord blood	blood
34	chr14:39841200-39867000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:39841400-39862800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:39841600-39851200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:39846200-39850200	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:39846200-39850400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:39846200-39850600	Weak transcription	Brain Substantia Nigra	brain
40	chr14:39846200-39851200	Weak transcription	Brain Anterior Caudate	brain
41	chr14:39846200-39864800	Weak transcription	NHEK	skin
42	chr14:39846200-39878800	Weak transcription	Right Ventricle	heart
43	chr14:39846400-39857200	Weak transcription	Liver	Liver
44	chr14:39846400-39862400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:39846400-39864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:39846400-39867200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:39846600-39851400	Weak transcription	Fetal Intestine Large	intestine
48	chr14:39846600-39851400	Weak transcription	Stomach Mucosa	stomach
49	chr14:39846600-39862600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:39846600-39864600	Weak transcription	HepG2	liver

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