Variant report

Variant	rs2769339
Chromosome Location	chr6:167355854-167355855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167353766..167357800-chr6:167411292..167413274,3	K562	blood:
2	chr6:167355022..167357881-chr6:167358676..167361500,2	K562	blood:
3	chr6:167345950..167348546-chr6:167353895..167356364,2	K562	blood:
4	chr6:167353995..167356024-chr6:167413983..167416895,2	K562	blood:
5	chr6:167244459..167246952-chr6:167353805..167356355,2	K562	blood:

Variant related genes	Relation type
ENSG00000026297	Chromatin interaction
ENSG00000227598	Chromatin interaction
ENSG00000272980	Chromatin interaction
ENSG00000197146	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000265828	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2757045	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2757048	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3777722	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777723	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs3798303	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1027314	chr6:167194653-167355961	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv538542	chr6:167194653-167355961	Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
8	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
9	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
11	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167337600-167363400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:167338200-167356000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:167340000-167358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:167340000-167363000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr6:167340000-167363000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:167340200-167362800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:167340400-167357200	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:167340400-167363000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:167340600-167363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:167340800-167359600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:167341000-167368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:167341200-167368800	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:167341400-167361400	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr6:167342400-167359600	Weak transcription	Placenta	Placenta
15	chr6:167342400-167368600	Weak transcription	Fetal Heart	heart
16	chr6:167344200-167364000	Weak transcription	Brain Angular Gyrus	brain
17	chr6:167344200-167368600	Weak transcription	Right Atrium	heart
18	chr6:167344400-167358200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:167344400-167362000	Strong transcription	GM12878-XiMat	blood
20	chr6:167344400-167363600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:167344400-167364000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:167344800-167359800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:167345600-167361400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr6:167346000-167358400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:167346400-167362200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:167348400-167364800	Weak transcription	Brain Substantia Nigra	brain
27	chr6:167350000-167363600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:167350200-167358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:167350400-167356000	Strong transcription	Primary T cells from cord blood	blood
30	chr6:167350600-167359800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:167350600-167361000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr6:167350600-167363200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:167350600-167366400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:167350600-167367600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:167351000-167362000	Strong transcription	Primary B cells from cord blood	blood
36	chr6:167351600-167360600	Weak transcription	Stomach Mucosa	stomach
37	chr6:167352200-167360400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:167352200-167363200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:167352200-167368800	Weak transcription	Fetal Kidney	kidney
40	chr6:167352400-167359200	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:167352400-167359400	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:167352400-167359400	Weak transcription	Dnd41	blood
43	chr6:167352400-167359600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:167352400-167360400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:167352400-167360600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:167352400-167363200	Weak transcription	Small Intestine	intestine
47	chr6:167352400-167364800	Weak transcription	Right Ventricle	heart
48	chr6:167352600-167356600	Weak transcription	Colonic Mucosa	Colon
49	chr6:167352600-167356800	Weak transcription	Fetal Lung	lung
50	chr6:167352600-167358600	Weak transcription	Ovary	ovary

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