Variant report

Variant	rs3826714
Chromosome Location	chr19:41825776-41825777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41813982..41818537-chr19:41824784..41829010,7	MCF-7	breast:
2	chr19:41769787..41771602-chr19:41823393..41825966,2	MCF-7	breast:
3	chr19:41824554..41827469-chr19:41868894..41871689,2	K562	blood:
4	chr19:41825498..41830119-chr19:41857290..41861615,7	MCF-7	breast:
5	chr19:41825452..41832651-chr19:41855170..41863054,16	K562	blood:

Variant related genes	Relation type
ENSG00000255730	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000142039	Chromatin interaction
ENSG00000105329	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10410836	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10421990	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1056854	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs11466359	0.95[EUR][1000 genomes]
rs11879562	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11880564	0.95[EUR][1000 genomes]
rs11881940	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs11881953	0.86[EUR][1000 genomes]
rs11882467	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs12327659	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12462203	0.85[CHB][hapmap]
rs12972266	0.95[EUR][1000 genomes]
rs12974323	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12974420	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs12975585	0.90[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs12975920	0.95[ASN][1000 genomes]
rs12976536	0.89[EUR][1000 genomes]
rs12978323	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12980298	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12980480	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12980839	0.92[ASN][1000 genomes]
rs12980942	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12981053	0.82[EUR][1000 genomes]
rs12983047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12984160	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12985162	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs12985339	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs13345456	0.97[ASN][1000 genomes]
rs16958994	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958996	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958999	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865053	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2053086	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2241718	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2241719	0.95[EUR][1000 genomes]
rs2241720	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2304230	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2304234	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs34075897	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34322801	0.96[EUR][1000 genomes]
rs34945449	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35501756	0.98[EUR][1000 genomes]
rs35812313	0.89[EUR][1000 genomes]
rs3745295	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3752705	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3816052	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4456618	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802111	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs4802112	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs4802113	0.84[CHB][hapmap]
rs4803448	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs4803449	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs6508974	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs66724427	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67511749	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67744888	0.89[EUR][1000 genomes]
rs6957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245398	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7246525	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs7248164	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7254679	0.83[CEU][hapmap];0.92[ASN][1000 genomes]
rs7256416	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7256856	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7257310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257742	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257825	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7258749	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8103839	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs8105161	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8105901	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs8109167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109627	1.00[CHB][hapmap];0.94[JPT][hapmap];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	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	chr19:41817000-41827800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41817200-41827200	Weak transcription	Right Atrium	heart
3	chr19:41817600-41827600	Strong transcription	Fetal Stomach	stomach
4	chr19:41817800-41827000	Strong transcription	Fetal Muscle Leg	muscle
5	chr19:41817800-41827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:41817800-41828800	Strong transcription	Fetal Intestine Small	intestine
7	chr19:41817800-41829200	Weak transcription	Fetal Brain Male	brain
8	chr19:41818000-41827200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:41818000-41828800	Weak transcription	Hela-S3	cervix
10	chr19:41818000-41829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:41818200-41825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:41818200-41825800	Strong transcription	A549	lung
13	chr19:41818200-41826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:41818200-41826800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:41818200-41827200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:41818200-41827200	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:41818200-41827400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:41818200-41827400	Strong transcription	Osteobl	bone
19	chr19:41818200-41827600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:41818200-41828400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr19:41818200-41831600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:41818400-41827000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:41818400-41827200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:41818400-41827200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr19:41818400-41827400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:41818400-41827400	Strong transcription	Fetal Thymus	thymus
27	chr19:41818400-41829000	Strong transcription	Fetal Intestine Large	intestine
28	chr19:41818400-41831200	Strong transcription	Thymus	Thymus
29	chr19:41818600-41825800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:41818600-41826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:41818600-41826400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:41818600-41827200	Strong transcription	Lung	lung
33	chr19:41818600-41854800	Strong transcription	Dnd41	blood
34	chr19:41818800-41827000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:41819000-41827000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr19:41819000-41827200	Strong transcription	Adipose Nuclei	Adipose
37	chr19:41819000-41827400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr19:41819000-41827800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:41819000-41830600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:41819200-41829200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:41819400-41827600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:41819600-41827000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr19:41819600-41828600	Weak transcription	Small Intestine	intestine
44	chr19:41819600-41829000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:41819800-41827400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr19:41820400-41826000	Strong transcription	HepG2	liver
47	chr19:41821200-41827000	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:41821400-41827400	Strong transcription	Liver	Liver
49	chr19:41821400-41830400	Strong transcription	Fetal Brain Female	brain
50	chr19:41821600-41827200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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