Variant report

Variant	rs34945449
Chromosome Location	chr19:41819824-41819825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41819386..41820924-chr19:41824537..41827343,2	MCF-7	breast:
2	chr19:41819424..41822559-chr19:41857625..41859763,4	K562	blood:
3	chr19:41817873..41820006-chr19:41861978..41863961,2	MCF-7	breast:
4	chr19:41819202..41822041-chr19:41945272..41948112,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142039	Chromatin interaction
ENSG00000105341	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10410836	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10421990	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1056854	0.87[EUR][1000 genomes]
rs11466359	0.95[EUR][1000 genomes]
rs11879562	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11880564	0.95[EUR][1000 genomes]
rs11881940	0.89[EUR][1000 genomes]
rs11881953	0.86[EUR][1000 genomes]
rs12327659	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12972266	0.95[EUR][1000 genomes]
rs12974323	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12974420	0.89[EUR][1000 genomes]
rs12975585	0.87[ASN][1000 genomes]
rs12975920	0.92[ASN][1000 genomes]
rs12976536	0.89[EUR][1000 genomes]
rs12980298	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12980480	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12980839	1.00[ASN][1000 genomes]
rs12980942	0.82[EUR][1000 genomes]
rs12981053	0.82[EUR][1000 genomes]
rs12983047	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12984160	0.95[EUR][1000 genomes]
rs12985162	0.92[EUR][1000 genomes]
rs12985339	0.89[EUR][1000 genomes]
rs13345456	0.94[ASN][1000 genomes]
rs16958994	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16958996	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16958999	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1865051	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1865052	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1865053	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2053086	0.89[EUR][1000 genomes]
rs2241718	0.94[EUR][1000 genomes]
rs2241719	0.95[EUR][1000 genomes]
rs2241720	0.95[EUR][1000 genomes]
rs2304230	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34075897	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34322801	0.96[EUR][1000 genomes]
rs35501756	0.98[EUR][1000 genomes]
rs35812313	0.89[EUR][1000 genomes]
rs3745295	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752705	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3816052	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3826714	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4456618	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66724427	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67511749	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67744888	0.89[EUR][1000 genomes]
rs6957	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7245398	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7248164	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7254679	0.91[ASN][1000 genomes]
rs7256416	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7256856	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7257310	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7257742	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7257825	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7258749	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8103839	0.89[EUR][1000 genomes]
rs8105161	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8105901	0.88[EUR][1000 genomes]
rs8109167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8109627	0.92[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	nsv911769	chr19:41813676-41845801	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41817000-41821600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41817000-41822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:41817000-41827800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:41817200-41827200	Weak transcription	Right Atrium	heart
5	chr19:41817400-41821800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:41817400-41822000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:41817400-41822000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:41817400-41822000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:41817400-41822000	Weak transcription	Ovary	ovary
10	chr19:41817400-41822200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:41817400-41822400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:41817400-41825200	Weak transcription	Stomach Mucosa	stomach
13	chr19:41817600-41822000	Weak transcription	Psoas Muscle	Psoas
14	chr19:41817600-41827600	Strong transcription	Fetal Stomach	stomach
15	chr19:41817800-41820000	Strong transcription	Primary T cells from cord blood	blood
16	chr19:41817800-41820200	Weak transcription	HMEC	breast
17	chr19:41817800-41822200	Weak transcription	Fetal Heart	heart
18	chr19:41817800-41822600	Weak transcription	NHDF-Ad	bronchial
19	chr19:41817800-41827000	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:41817800-41827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:41817800-41828800	Strong transcription	Fetal Intestine Small	intestine
22	chr19:41817800-41829200	Weak transcription	Fetal Brain Male	brain
23	chr19:41818000-41820600	Strong transcription	NHEK	skin
24	chr19:41818000-41825400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:41818000-41827200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:41818000-41828800	Weak transcription	Hela-S3	cervix
27	chr19:41818000-41829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:41818200-41820200	Strong transcription	Left Ventricle	heart
29	chr19:41818200-41820800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:41818200-41820800	Strong transcription	HUVEC	blood vessel
31	chr19:41818200-41822400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:41818200-41824600	Strong transcription	Spleen	Spleen
33	chr19:41818200-41825600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:41818200-41825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:41818200-41825800	Strong transcription	A549	lung
36	chr19:41818200-41826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:41818200-41826800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:41818200-41827200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:41818200-41827200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:41818200-41827400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:41818200-41827400	Strong transcription	Osteobl	bone
42	chr19:41818200-41827600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:41818200-41828400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr19:41818200-41831600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:41818400-41820000	Strong transcription	Brain Germinal Matrix	brain
46	chr19:41818400-41820000	Strong transcription	Colonic Mucosa	Colon
47	chr19:41818400-41820600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr19:41818400-41820600	Strong transcription	Fetal Lung	lung
49	chr19:41818400-41820600	Strong transcription	NHLF	lung
50	chr19:41818400-41820800	Strong transcription	Muscle Satellite Cultured Cells	--

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