Variant report

Variant	rs310465
Chromosome Location	chr19:56123746-56123747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56123360..56125728-chr19:56143804..56146332,2	K562	blood:
2	chr19:56123203..56125337-chr19:56143118..56145205,2	MCF-7	breast:
3	chr19:56116000..56119312-chr19:56122776..56125613,4	MCF-7	breast:
4	chr19:56115478..56119505-chr19:56121747..56126815,6	K562	blood:
5	chr19:56119981..56122745-chr19:56123136..56127076,6	K562	blood:
6	chr19:56122149..56126669-chr19:56127522..56130662,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261221	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs310464	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310467	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs504003	1.00[CHB][hapmap]
rs507498	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs520125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs522669	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs553947	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs612211	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs637788	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs644230	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs681433	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs889091	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56117600-56124800	Weak transcription	Small Intestine	intestine
2	chr19:56118200-56125600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:56118200-56135000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:56118400-56125200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:56118400-56125400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:56118400-56125600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:56118400-56125600	Weak transcription	Esophagus	oesophagus
8	chr19:56118400-56126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:56118400-56126000	Weak transcription	Brain Substantia Nigra	brain
10	chr19:56118400-56126800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:56118400-56127000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:56118400-56127400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:56118400-56128800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:56118400-56134400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:56118400-56135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:56118400-56135200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:56118400-56135200	Weak transcription	HUVEC	blood vessel
18	chr19:56118600-56126000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:56118600-56127400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:56118600-56128800	Weak transcription	Stomach Mucosa	stomach
21	chr19:56118600-56129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:56118600-56129800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:56118600-56131600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr19:56118600-56131800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:56118600-56134800	Strong transcription	Fetal Intestine Small	intestine
26	chr19:56118600-56134800	Weak transcription	K562	blood
27	chr19:56118600-56135200	Weak transcription	Fetal Brain Male	brain
28	chr19:56118800-56127600	Weak transcription	HMEC	breast
29	chr19:56118800-56129400	Strong transcription	Thymus	Thymus
30	chr19:56118800-56131000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:56119600-56134000	Weak transcription	HepG2	liver
32	chr19:56119600-56134800	Weak transcription	Hela-S3	cervix
33	chr19:56119800-56123800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr19:56119800-56124000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:56120200-56129400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:56120400-56129400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:56120800-56129200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:56120800-56129400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:56121000-56129200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:56121200-56125600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:56121200-56135000	Weak transcription	NH-A	brain
42	chr19:56121400-56125600	Weak transcription	Ovary	ovary
43	chr19:56121400-56125600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:56121400-56127600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:56121400-56129400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:56121400-56129800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:56121600-56125400	Weak transcription	Aorta	Aorta
48	chr19:56121600-56125600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:56121600-56125600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:56121600-56126000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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