Variant report

Variant	rs1404269
Chromosome Location	chr6:161509543-161509544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161509152..161511897-chr6:161521324..161523169,2	K562	blood:
2	chr6:161505679..161509602-chr6:161513922..161516452,3	K562	blood:
3	chr6:161507724..161510656-chr6:161766500..161768672,2	K562	blood:
4	chr6:161503095..161506959-chr6:161507248..161511122,5	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1001421	1.00[CHB][hapmap]
rs1001422	1.00[CHB][hapmap]
rs1001756	1.00[CHB][hapmap]
rs11751634	1.00[CHB][hapmap]
rs11751843	1.00[CHB][hapmap]
rs11752188	1.00[CHB][hapmap]
rs11757223	1.00[CHB][hapmap]
rs11757309	1.00[CHB][hapmap]
rs11757882	1.00[CHB][hapmap]
rs11758794	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11759408	1.00[CHB][hapmap]
rs11962121	1.00[CHB][hapmap]
rs12110827	1.00[CHB][hapmap]
rs12527150	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464781	1.00[CHB][hapmap]
rs1534020	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562025	1.00[CHB][hapmap]
rs1569937	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1807426	1.00[CHB][hapmap]
rs1822520	1.00[ASN][1000 genomes]
rs2009830	1.00[CHB][hapmap]
rs2177587	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314190	1.00[CHB][hapmap]
rs2314376	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314377	1.00[CHB][hapmap]
rs3778218	1.00[CHB][hapmap]
rs3778225	1.00[CHB][hapmap]
rs3798916	1.00[CHB][hapmap]
rs3823057	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs4709494	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905734	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919510	1.00[ASN][1000 genomes]
rs6940321	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs7754215	1.00[CHB][hapmap]
rs9365245	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9365252	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9456635	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9458121	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9458135	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9458141	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr6:161486200-161519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:161491000-161538400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:161491600-161516400	Strong transcription	Placenta	Placenta
4	chr6:161491600-161525400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:161491600-161528800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr6:161491600-161529000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:161492200-161513800	Strong transcription	Fetal Intestine Large	intestine
9	chr6:161493800-161521400	Strong transcription	Fetal Thymus	thymus
10	chr6:161494400-161512600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:161494400-161513400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:161494400-161515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:161494400-161525600	Strong transcription	Dnd41	blood
14	chr6:161494400-161542400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr6:161494800-161513800	Strong transcription	Fetal Brain Female	brain
16	chr6:161495000-161512800	Strong transcription	Ovary	ovary
17	chr6:161495000-161513400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr6:161495200-161513200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr6:161495200-161538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:161495400-161512600	Strong transcription	Fetal Stomach	stomach
21	chr6:161495400-161515400	Strong transcription	Fetal Lung	lung
22	chr6:161495400-161516400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:161495600-161512800	Strong transcription	Fetal Muscle Leg	muscle
24	chr6:161496000-161539800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:161497000-161512600	Strong transcription	Thymus	Thymus
26	chr6:161497000-161513000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:161497800-161539600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:161498000-161541800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:161498200-161515400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:161498600-161525600	Strong transcription	Primary T cells from cord blood	blood
31	chr6:161499000-161512800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:161499000-161531800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:161499200-161515400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:161499200-161517000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr6:161499400-161511000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr6:161499800-161515600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:161499800-161521600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:161500200-161540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:161500400-161515400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:161500400-161517000	Strong transcription	Liver	Liver
41	chr6:161500400-161525600	Strong transcription	Adipose Nuclei	Adipose
42	chr6:161500600-161513400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:161500600-161539800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr6:161500600-161541800	Strong transcription	K562	blood
45	chr6:161500800-161511600	Strong transcription	Brain Hippocampus Middle	brain
46	chr6:161500800-161515400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:161500800-161538200	Strong transcription	Primary B cells from cord blood	blood
48	chr6:161501000-161513200	Strong transcription	Left Ventricle	heart
49	chr6:161501000-161515800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:161501000-161517000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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