Variant report

Variant	rs2769342
Chromosome Location	chr6:167358566-167358567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:167358198-167358772	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:167358227-167358751	GM12891	blood:	n/a	n/a
3	POLR2A	chr6:167358218-167358862	GM12892	blood:	n/a	n/a
4	POLR2A	chr6:167358276-167358702	GM12891	blood:	n/a	n/a
5	EGR1	chr6:167358497-167358693	K562	blood:	n/a	n/a
6	POLR2A	chr6:167358139-167358891	GM12878	blood:	n/a	n/a
7	TCF12	chr6:167358289-167358727	GM12878	blood:	n/a	n/a
8	JUND	chr6:167358352-167358633	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:167358418-167358919	HepG2	liver:	n/a	n/a
10	TCF3	chr6:167358268-167358806	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:167358296-167358716	GM12891	blood:	n/a	n/a
12	ZEB1	chr6:167358404-167358733	GM12878	blood:	n/a	chr6:167358602-167358611 chr6:167358567-167358576
13	TCF3	chr6:167358371-167358662	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:167357786-167359096	GM12878	blood:	n/a	n/a
15	POU2F2	chr6:167358339-167358575	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:167357723-167358981	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:167358236-167358740	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:167358311-167358569	GM12892	blood:	n/a	n/a
19	POLR2A	chr6:167358247-167358787	GM12891	blood:	n/a	n/a
20	POLR2A	chr6:167358236-167358816	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:167358053-167358924	GM12892	blood:	n/a	n/a
22	TCF12	chr6:167358282-167358667	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:167358233-167358875	HepG2	liver:	n/a	n/a
24	HEY1	chr6:167358199-167358905	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:167358103-167358848	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:167357959-167359079	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:167358262-167358722	HepG2	liver:	n/a	n/a
28	EGR1	chr6:167358379-167358620	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167356381..167359345-chr6:167359373..167361500,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS6KA2-2	chr6:167357853-167360151	NONHSAT116065

No data

Variant related genes	Relation type
RNASET2	TF binding region
ENSG00000197146	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2757057	0.85[AFR][1000 genomes]
rs2769341	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
6	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
7	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
8	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
9	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
10	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:105 , 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	chr6:167340000-167358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:167340000-167363000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr6:167340000-167363000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:167340200-167362800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:167340400-167363000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:167340600-167363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:167340800-167359600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:167341000-167368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:167341200-167368800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:167341400-167361400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr6:167342400-167359600	Weak transcription	Placenta	Placenta
13	chr6:167342400-167368600	Weak transcription	Fetal Heart	heart
14	chr6:167344200-167364000	Weak transcription	Brain Angular Gyrus	brain
15	chr6:167344200-167368600	Weak transcription	Right Atrium	heart
16	chr6:167344400-167362000	Strong transcription	GM12878-XiMat	blood
17	chr6:167344400-167363600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:167344400-167364000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:167344800-167359800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:167345600-167361400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:167346400-167362200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:167348400-167364800	Weak transcription	Brain Substantia Nigra	brain
23	chr6:167350000-167363600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:167350200-167358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:167350600-167359800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:167350600-167361000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr6:167350600-167363200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:167350600-167366400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:167350600-167367600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:167351000-167362000	Strong transcription	Primary B cells from cord blood	blood
31	chr6:167351600-167360600	Weak transcription	Stomach Mucosa	stomach
32	chr6:167352200-167360400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:167352200-167363200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:167352200-167368800	Weak transcription	Fetal Kidney	kidney
35	chr6:167352400-167359200	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:167352400-167359400	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:167352400-167359400	Weak transcription	Dnd41	blood
38	chr6:167352400-167359600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:167352400-167360400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:167352400-167360600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:167352400-167363200	Weak transcription	Small Intestine	intestine
42	chr6:167352400-167364800	Weak transcription	Right Ventricle	heart
43	chr6:167352600-167358600	Weak transcription	Ovary	ovary
44	chr6:167352600-167358600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:167352600-167359400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:167352800-167358800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:167353400-167359400	Weak transcription	Adipose Nuclei	Adipose
48	chr6:167353600-167359200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:167353600-167359400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:167353600-167360400	Weak transcription	Fetal Brain Female	brain

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