Variant report

Variant	rs9304639
Chromosome Location	chr19:44670302-44670303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44616225..44617902-chr19:44668355..44670566,2	MCF-7	breast:
2	chr19:44643597..44647343-chr19:44667648..44671629,7	K562	blood:
3	chr19:44668036..44670553-chr19:44709491..44711796,2	MCF-7	breast:
4	chr19:44668674..44671221-chr19:44672001..44674509,3	K562	blood:
5	chr19:44644162..44647190-chr19:44667490..44670508,3	MCF-7	breast:
6	chr19:44669130..44670714-chr19:45003024..45005915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167380	Chromatin interaction
ENSG00000186019	Chromatin interaction
ENSG00000131115	Chromatin interaction
ENSG00000263002	Chromatin interaction
ENSG00000167384	Chromatin interaction
ENSG00000256294	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10153465	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10153499	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10405281	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10406980	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10408004	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409884	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409954	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10410283	1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412910	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10415563	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs10415664	0.88[ASN][1000 genomes]
rs10416230	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416292	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10417178	1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420465	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10422555	0.96[ASN][1000 genomes]
rs10422609	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10424371	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10425146	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10425881	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426314	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1106562	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11140	0.89[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11878679	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11878720	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11879588	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11879843	0.90[ASN][1000 genomes]
rs13346417	0.82[ASN][1000 genomes]
rs16959114	1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs16978738	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs16978794	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16978836	1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1881748	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141524	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141525	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178342	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28422007	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3746322	0.82[ASN][1000 genomes]
rs3803932	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3810137	0.83[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4802212	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802213	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802215	1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803683	0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4803685	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4803686	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4803688	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4803692	0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803693	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55732275	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57418162	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57451052	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58358390	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59576456	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59774711	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60379253	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60747128	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509144	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6509147	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6509148	1.00[CHB][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248797	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249992	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254034	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254458	0.92[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7259777	0.82[ASN][1000 genomes]
rs7260367	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260588	0.82[ASN][1000 genomes]
rs73564059	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73564095	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107252	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108504	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8108908	1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111388	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs922063	0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs922064	0.90[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[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	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44668400-44670400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:44668400-44670600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44668400-44670800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:44668600-44670400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr19:44668600-44670400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:44668600-44670400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:44668600-44670400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr19:44668600-44670400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:44668600-44670400	Active TSS	Fetal Intestine Large	intestine
10	chr19:44668600-44670400	Active TSS	A549	lung
11	chr19:44668600-44670400	Active TSS	HSMM	muscle
12	chr19:44668600-44670600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:44668600-44670800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:44668800-44670400	Active TSS	Fetal Intestine Small	intestine
15	chr19:44668800-44670400	Active TSS	Fetal Lung	lung
16	chr19:44669000-44670400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:44669000-44670400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:44669600-44670400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr19:44669600-44670400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr19:44669600-44670400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr19:44669600-44670400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr19:44669600-44670400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr19:44669600-44670400	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr19:44669600-44670400	Flanking Active TSS	Psoas Muscle	Psoas
25	chr19:44669600-44670400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr19:44669600-44670400	Flanking Active TSS	HUVEC	blood vessel
27	chr19:44669600-44670400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr19:44669600-44670600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:44669600-44670600	Flanking Active TSS	Liver	Liver
30	chr19:44669600-44670600	Active TSS	Brain Germinal Matrix	brain
31	chr19:44669600-44671000	Flanking Active TSS	Fetal Brain Female	brain
32	chr19:44669800-44670400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr19:44669800-44670400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr19:44669800-44670400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr19:44669800-44670400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:44669800-44670400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:44669800-44670400	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr19:44669800-44670400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr19:44669800-44670400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr19:44669800-44670400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr19:44669800-44670400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr19:44669800-44670400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr19:44669800-44670400	Flanking Active TSS	Fetal Heart	heart
44	chr19:44669800-44670400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr19:44669800-44670400	Flanking Active TSS	Right Atrium	heart
46	chr19:44669800-44670400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:44669800-44670400	Flanking Active TSS	Stomach Mucosa	stomach
48	chr19:44669800-44670400	Flanking Active TSS	Thymus	Thymus
49	chr19:44669800-44670400	Flanking Active TSS	Hela-S3	cervix
50	chr19:44669800-44670400	Flanking Active TSS	NHEK	skin

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