Variant report

Variant	rs3778219
Chromosome Location	chr6:161497740-161497741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161495917..161498579-chr6:161589322..161591703,2	K562	blood:
2	chr6:161496125..161498637-chr6:161646119..161648729,2	K562	blood:
3	chr6:161496988..161499514-chr6:161501999..161503935,2	K562	blood:
4	chr6:161496204..161498134-chr6:161499859..161501586,2	K562	blood:
5	chr6:161491365..161493200-chr6:161495759..161498735,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1001808	0.80[ASN][1000 genomes]
rs12174748	0.93[EUR][1000 genomes]
rs12665456	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13200744	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs13206391	0.93[EUR][1000 genomes]
rs13209847	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35894036	0.84[EUR][1000 genomes]
rs3736569	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.97[EUR][1000 genomes]
rs3757021	0.81[CHB][hapmap]
rs3798907	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3798910	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3798912	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3798913	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3798915	0.80[ASN][1000 genomes]
rs4709488	0.81[CHB][hapmap]
rs588284	0.93[EUR][1000 genomes]
rs589238	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs590988	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs619831	0.93[EUR][1000 genomes]
rs628075	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs630430	0.93[EUR][1000 genomes]
rs643706	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs644110	0.88[GIH][hapmap]
rs655382	0.87[EUR][1000 genomes]
rs657616	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs685939	0.93[EUR][1000 genomes]
rs686392	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs686755	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6918051	1.00[YRI][hapmap]
rs71565787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71565788	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs787784	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9355861	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs9364587	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9365249	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9365251	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9458114	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161453600-161506600	Weak transcription	Small Intestine	intestine
2	chr6:161456400-161501600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
4	chr6:161459800-161502800	Weak transcription	HUVEC	blood vessel
5	chr6:161460000-161499200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:161462800-161497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:161462800-161508200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:161463800-161499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:161470600-161508000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:161471000-161503800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:161471400-161500600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:161478400-161501400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:161480200-161500800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:161482800-161498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:161482800-161499200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:161486200-161499200	Weak transcription	Gastric	stomach
17	chr6:161486200-161499200	Weak transcription	Spleen	Spleen
18	chr6:161486200-161519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:161487800-161501000	Weak transcription	NHEK	skin
20	chr6:161488000-161499200	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:161488000-161501800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:161488200-161501600	Weak transcription	NHDF-Ad	bronchial
23	chr6:161489400-161501400	Weak transcription	Brain Anterior Caudate	brain
24	chr6:161489800-161502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:161490000-161508000	Weak transcription	Fetal Heart	heart
26	chr6:161490800-161501800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:161490800-161501800	Weak transcription	Right Ventricle	heart
28	chr6:161490800-161508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:161491000-161538400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr6:161491200-161508400	Weak transcription	Stomach Mucosa	stomach
31	chr6:161491600-161498000	Strong transcription	Liver	Liver
32	chr6:161491600-161500000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:161491600-161516400	Strong transcription	Placenta	Placenta
34	chr6:161491600-161525400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:161491600-161528800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr6:161491600-161529000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:161491800-161498000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:161491800-161498200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:161492200-161513800	Strong transcription	Fetal Intestine Large	intestine
41	chr6:161493000-161500600	Weak transcription	Colonic Mucosa	Colon
42	chr6:161493600-161502600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:161493800-161503800	Weak transcription	A549	lung
44	chr6:161493800-161521400	Strong transcription	Fetal Thymus	thymus
45	chr6:161494000-161505600	Strong transcription	GM12878-XiMat	blood
46	chr6:161494200-161498000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:161494400-161498000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:161494400-161498800	Strong transcription	Primary B cells from cord blood	blood
49	chr6:161494400-161509000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:161494400-161512600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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