Variant report

Variant	rs34340219
Chromosome Location	chr14:65166298-65166299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65145652..65150075-chr14:65165666..65170172,5	MCF-7	breast:
2	chr14:65166002..65169038-chr14:65170333..65174103,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10138034	0.96[EUR][1000 genomes]
rs11621159	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621379	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11622754	0.96[EUR][1000 genomes]
rs11625500	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883289	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884903	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12892852	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895353	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553163	0.96[EUR][1000 genomes]
rs170683	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170685	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767074	0.91[AMR][1000 genomes]
rs229622	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229645	0.94[EUR][1000 genomes]
rs229648	1.00[ASN][1000 genomes]
rs229649	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229653	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229656	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140781	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71420472	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732311	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943995	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65149400-65169400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:65160000-65168400	Weak transcription	HMEC	breast
3	chr14:65160000-65168600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:65160800-65166600	Enhancers	Fetal Intestine Small	intestine
5	chr14:65161200-65169200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65161400-65168200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:65161800-65168400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:65162000-65167600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:65162200-65169800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:65162800-65166400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:65162800-65166400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:65162800-65166600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:65163000-65166400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr14:65163200-65170600	Weak transcription	Right Ventricle	heart
15	chr14:65163400-65166600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:65163400-65167400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:65163400-65170400	Weak transcription	Left Ventricle	heart
18	chr14:65163400-65170600	Weak transcription	Right Atrium	heart
19	chr14:65163600-65168200	Weak transcription	Brain Anterior Caudate	brain
20	chr14:65163600-65170000	Weak transcription	Fetal Heart	heart
21	chr14:65163800-65169600	Weak transcription	Colonic Mucosa	Colon
22	chr14:65164000-65166600	Enhancers	Placenta	Placenta
23	chr14:65164200-65168400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:65164400-65166600	Enhancers	Fetal Intestine Large	intestine
25	chr14:65164400-65167200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:65164600-65166600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr14:65164800-65166400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr14:65164800-65166400	Enhancers	Small Intestine	intestine
29	chr14:65164800-65166600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr14:65164800-65166600	Enhancers	Duodenum Mucosa	Duodenum
31	chr14:65165200-65166400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:65165200-65166400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr14:65165200-65166600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr14:65165200-65166800	Enhancers	Fetal Thymus	thymus
35	chr14:65165400-65166400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:65165400-65166400	Enhancers	NHEK	skin
37	chr14:65165400-65166600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:65165400-65167200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:65165600-65166400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr14:65165600-65166400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr14:65165600-65167600	Weak transcription	Brain Substantia Nigra	brain
42	chr14:65165800-65166400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:65165800-65166400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:65165800-65166600	Enhancers	Pancreas	Pancrea
45	chr14:65165800-65168000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr14:65165800-65169400	Weak transcription	Adipose Nuclei	Adipose
47	chr14:65166000-65166400	Enhancers	Stomach Mucosa	stomach
48	chr14:65166000-65166600	Enhancers	Primary B cells from cord blood	blood
49	chr14:65166000-65167600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:65166000-65167600	Weak transcription	Brain Hippocampus Middle	brain

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