Variant report

Variant	rs11668599
Chromosome Location	chr19:42955136-42955137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42954315..42955211-chr19:43033063..43034067,7	K562	blood:
2	chr19:42954321..42955243-chr19:43033178..43034138,5	MCF-7	breast:
3	chr19:42954091..42956450-chr19:43031167..43032673,2	MCF-7	breast:
4	chr19:42954441..42955205-chr19:43100309..43101289,2	MCF-7	breast:
5	chr19:42954301..42955305-chr19:43033122..43034033,12	MCF-7	breast:
6	chr19:42954317..42955251-chr19:43045554..43046465,4	K562	blood:

Variant related genes	Relation type
ENSG00000079385	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10084159	0.92[ASN][1000 genomes]
rs10401271	0.93[ASN][1000 genomes]
rs10403517	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10405445	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10405906	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10413413	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10416089	0.84[EUR][1000 genomes]
rs10422987	0.93[EUR][1000 genomes]
rs10469284	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10469285	0.83[AMR][1000 genomes]
rs11665870	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11665935	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11666350	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11668460	0.81[AMR][1000 genomes]
rs11671272	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11671846	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11673645	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879306	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11881517	0.93[EUR][1000 genomes]
rs11882150	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12611218	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13343936	0.93[ASN][1000 genomes]
rs16975789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16975865	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16975890	0.83[AMR][1000 genomes]
rs28411988	0.93[EUR][1000 genomes]
rs4080606	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55850134	0.85[EUR][1000 genomes]
rs60313903	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7253056	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8102439	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs8103891	0.93[EUR][1000 genomes]
rs8106570	0.90[EUR][1000 genomes]
rs8107254	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8107790	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8112156	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs851298	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851301	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs851302	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42948200-42956800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr19:42950200-42955400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr19:42952000-42957600	Enhancers	HepG2	liver
4	chr19:42952400-42964400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:42952800-42955200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:42952800-42955400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr19:42952800-42955400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:42952800-42955800	Enhancers	Stomach Mucosa	stomach
9	chr19:42953000-42955200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:42953000-42955400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:42953200-42955600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr19:42953400-42956600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:42953400-42957200	Enhancers	Duodenum Mucosa	Duodenum
14	chr19:42953600-42955200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:42953600-42955400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr19:42953600-42955400	Enhancers	Adipose Nuclei	Adipose
17	chr19:42953600-42957800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr19:42953800-42955200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr19:42953800-42955200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:42953800-42955200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:42953800-42955200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:42953800-42955200	Enhancers	Liver	Liver
23	chr19:42953800-42955200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr19:42953800-42955400	Enhancers	Fetal Intestine Small	intestine
25	chr19:42953800-42955400	Enhancers	A549	lung
26	chr19:42953800-42955600	Enhancers	Fetal Intestine Large	intestine
27	chr19:42954000-42957200	Weak transcription	Lung	lung
28	chr19:42954200-42956400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr19:42954200-42957800	Enhancers	Primary hematopoietic stem cells	blood
30	chr19:42954200-42959000	Weak transcription	Small Intestine	intestine
31	chr19:42954400-42955200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:42954400-42955400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr19:42954400-42955400	Enhancers	Primary B cells from peripheral blood	blood
34	chr19:42954400-42957600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:42954400-42957800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:42954400-42961000	Enhancers	Primary B cells from cord blood	blood
37	chr19:42954600-42955600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr19:42954600-42955600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:42954600-42956200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr19:42954600-42960000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:42954600-42961600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr19:42954800-42955200	Enhancers	Primary T cells from cord blood	blood
43	chr19:42954800-42955600	Weak transcription	GM12878-XiMat	blood
44	chr19:42954800-42956200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:42954800-42956200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:42954800-42956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:42954800-42956600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:42954800-42956600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr19:42954800-42959200	Weak transcription	HMEC	breast
50	chr19:42955000-42955200	Enhancers	Left Ventricle	heart

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