Variant report

Variant	rs2094275
Chromosome Location	chr14:39850935-39850936
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:
2	chr14:39839625..39841702-chr14:39850583..39853034,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271424	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10130584	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10130959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10142118	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10143290	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10146207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148678	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10148762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10483539	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11157065	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11844333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11844337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11844410	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11845552	0.81[AMR][1000 genomes]
rs11849739	0.90[AMR][1000 genomes]
rs11850682	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12434446	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12587760	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12589259	0.92[AMR][1000 genomes]
rs12590681	0.83[AMR][1000 genomes]
rs17623137	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17623398	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17696146	0.92[AMR][1000 genomes]
rs17696446	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17696497	0.92[AMR][1000 genomes]
rs1955725	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2025029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2092723	0.83[AMR][1000 genomes]
rs2117338	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2148506	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2182522	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2415548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3783292	1.00[JPT][hapmap]
rs4899219	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4899237	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902500	1.00[JPT][hapmap]
rs6571914	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6571916	1.00[JPT][hapmap]
rs6571917	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6571918	0.85[AFR][1000 genomes]
rs6571934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571935	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571936	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140561	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7149131	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs7151017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7156249	0.83[AMR][1000 genomes]
rs7158384	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7159584	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72677604	0.85[AMR][1000 genomes]
rs72677610	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72677622	0.92[AMR][1000 genomes]
rs72677624	0.92[AMR][1000 genomes]
rs72677630	0.92[AMR][1000 genomes]
rs72677635	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72677640	0.92[AMR][1000 genomes]
rs72677641	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72677644	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72677648	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8005849	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8006198	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8010635	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8010826	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8012235	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8019161	1.00[JPT][hapmap]

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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
2	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:39834000-39851600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:39834600-39851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:39835000-39851600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:39835200-39851600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:39835400-39851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:39835400-39872400	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:39836200-39872800	Weak transcription	Esophagus	oesophagus
10	chr14:39836400-39870600	Weak transcription	Gastric	stomach
11	chr14:39836600-39852600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:39837000-39852600	Weak transcription	Primary T cells from cord blood	blood
13	chr14:39837800-39851600	Weak transcription	Dnd41	blood
14	chr14:39840000-39851600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:39840000-39852600	Weak transcription	Thymus	Thymus
16	chr14:39840000-39855000	Weak transcription	Fetal Stomach	stomach
17	chr14:39840000-39856000	Weak transcription	Fetal Intestine Small	intestine
18	chr14:39840000-39863200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:39840000-39863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:39840000-39864000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:39840000-39867000	Weak transcription	Left Ventricle	heart
22	chr14:39840000-39867400	Weak transcription	Pancreas	Pancrea
23	chr14:39840000-39882600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:39840200-39851600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:39840200-39852200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:39840200-39867200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:39840600-39864400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:39841000-39865800	Weak transcription	Primary B cells from cord blood	blood
29	chr14:39841200-39867000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:39841400-39862800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:39841600-39851200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:39846200-39851200	Weak transcription	Brain Anterior Caudate	brain
33	chr14:39846200-39864800	Weak transcription	NHEK	skin
34	chr14:39846200-39878800	Weak transcription	Right Ventricle	heart
35	chr14:39846400-39857200	Weak transcription	Liver	Liver
36	chr14:39846400-39862400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:39846400-39864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:39846400-39867200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:39846600-39851400	Weak transcription	Fetal Intestine Large	intestine
40	chr14:39846600-39851400	Weak transcription	Stomach Mucosa	stomach
41	chr14:39846600-39862600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:39846600-39864600	Weak transcription	HepG2	liver
43	chr14:39846600-39864600	Weak transcription	NH-A	brain
44	chr14:39846600-39864800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:39846600-39866600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:39846800-39862600	Weak transcription	Adipose Nuclei	Adipose
47	chr14:39846800-39872400	Weak transcription	HSMMtube	muscle
48	chr14:39848000-39862600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:39850000-39851000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:39850200-39851000	Active TSS	Brain Hippocampus Middle	brain

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