Variant report

Variant	rs71420472
Chromosome Location	chr14:65162570-65162571
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	chr14:65160629..65162751-chr14:65201298..65203943,2	MCF-7	breast:

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	0.86[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]
rs34340219	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140781	0.85[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:56 , 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	chr14:65155600-65165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:65155800-65163000	Weak transcription	Lung	lung
4	chr14:65156000-65163000	Weak transcription	Pancreas	Pancrea
5	chr14:65156000-65165000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:65156000-65165200	Weak transcription	Fetal Thymus	thymus
7	chr14:65156600-65162800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:65156800-65162800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:65156800-65162800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:65156800-65163000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:65158800-65164600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:65159000-65166000	Enhancers	Brain Hippocampus Middle	brain
13	chr14:65159200-65163000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:65159200-65163600	Enhancers	Fetal Heart	heart
15	chr14:65159600-65163000	Weak transcription	Colonic Mucosa	Colon
16	chr14:65159800-65163000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:65160000-65162800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:65160000-65163000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:65160000-65165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:65160000-65165800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:65160000-65168400	Weak transcription	HMEC	breast
22	chr14:65160000-65168600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:65160200-65165400	Weak transcription	NHEK	skin
24	chr14:65160600-65162800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:65160600-65163000	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:65160800-65163000	Weak transcription	Aorta	Aorta
27	chr14:65160800-65164800	Weak transcription	Primary B cells from cord blood	blood
28	chr14:65160800-65166600	Enhancers	Fetal Intestine Small	intestine
29	chr14:65161000-65163000	Weak transcription	Fetal Kidney	kidney
30	chr14:65161000-65163000	Weak transcription	Spleen	Spleen
31	chr14:65161000-65164000	Weak transcription	Placenta	Placenta
32	chr14:65161000-65165000	Weak transcription	Adipose Nuclei	Adipose
33	chr14:65161200-65163000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:65161200-65163200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:65161200-65165000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:65161200-65169200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:65161400-65168200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:65161600-65163000	Weak transcription	Left Ventricle	heart
39	chr14:65161600-65164600	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:65161600-65165800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:65161800-65163000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:65161800-65163000	Weak transcription	Right Atrium	heart
43	chr14:65161800-65163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:65161800-65168400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:65162000-65163000	Weak transcription	Brain Angular Gyrus	brain
46	chr14:65162000-65163000	Weak transcription	Brain Anterior Caudate	brain
47	chr14:65162000-65163000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:65162000-65163200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:65162000-65165200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:65162000-65167600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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