Variant report

Variant	rs686392
Chromosome Location	chr6:161432984-161432985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161425971..161428615-chr6:161431158..161434140,4	K562	blood:
2	chr6:161429995..161433253-chr6:161449573..161453041,3	MCF-7	breast:
3	chr6:161417175..161419433-chr6:161431394..161434552,3	K562	blood:
4	chr6:161422502..161428879-chr6:161429746..161435781,7	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12174748	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12203648	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs12665456	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13200744	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[EUR][1000 genomes]
rs13206391	0.97[EUR][1000 genomes]
rs13209847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35894036	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736569	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs3778219	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3798907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3798910	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3798912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3798913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4709485	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs588284	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589238	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs590988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs593184	0.94[ASN][1000 genomes]
rs594555	0.88[CHB][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs594602	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs619831	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs629015	0.92[ASN][1000 genomes]
rs630006	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs630430	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs643706	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs644110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs645406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs655382	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs657616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs671335	0.84[ASN][1000 genomes]
rs674220	1.00[ASN][1000 genomes]
rs675538	1.00[ASN][1000 genomes]
rs685939	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs686755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901173	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs6901968	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs6913867	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs71565787	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71565788	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7756711	0.90[CHB][hapmap]
rs787784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs796835	1.00[ASN][1000 genomes]
rs9347478	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs9355327	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs9355861	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs9364587	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes]
rs9365249	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9365251	0.82[AFR][1000 genomes];0.97[EUR][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	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161413800-161433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:161414200-161458200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:161414600-161442600	Weak transcription	Primary B cells from cord blood	blood
5	chr6:161414600-161457400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:161415600-161450000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:161416800-161436200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:161417400-161449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:161417800-161433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:161418000-161434800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:161418000-161448800	Weak transcription	Lung	lung
13	chr6:161420000-161434800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:161422800-161433600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:161422800-161434600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:161422800-161441000	Weak transcription	K562	blood
17	chr6:161423000-161443000	Weak transcription	HepG2	liver
18	chr6:161423200-161433600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:161423200-161436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:161428600-161455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:161430800-161433000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:161430800-161435200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:161431000-161433800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:161431000-161442400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:161431200-161433800	Enhancers	NH-A	brain
26	chr6:161431200-161433800	Enhancers	NHDF-Ad	bronchial
27	chr6:161431200-161434200	Enhancers	Osteobl	bone
28	chr6:161431200-161434400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:161431200-161434800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:161431200-161435000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:161431400-161433200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:161431400-161435000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:161431600-161433200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:161431600-161433800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:161431600-161434000	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:161431600-161434600	Enhancers	Colon Smooth Muscle	Colon
37	chr6:161431800-161433000	Enhancers	HSMM	muscle
38	chr6:161431800-161433200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:161431800-161433200	Enhancers	NHLF	lung
40	chr6:161431800-161433400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:161431800-161433400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:161431800-161433400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:161431800-161433400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:161431800-161433400	Enhancers	Brain Angular Gyrus	brain
45	chr6:161431800-161433400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:161431800-161433400	Enhancers	Fetal Lung	lung
47	chr6:161431800-161434000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:161431800-161434000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:161431800-161434000	Enhancers	Brain Hippocampus Middle	brain
50	chr6:161431800-161434000	Enhancers	Brain Substantia Nigra	brain

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