Variant report

Variant	rs7765302
Chromosome Location	chr6:163832858-163832859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:163832297-163832904	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:163831872-163833187	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:163832833-163832861	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163725918..163727720-chr6:163831906..163834070,2	K562	blood:
2	chr6:163832712..163834333-chr6:164408971..164410917,2	K562	blood:
3	chr6:163831740..163833588-chr6:164102782..164105266,2	K562	blood:
4	chr6:163707215..163709135-chr6:163832836..163834940,2	MCF-7	breast:
5	chr6:163832850..163838270-chr6:163950827..163956360,5	K562	blood:
6	chr6:163680711..163682973-chr6:163830679..163833543,2	K562	blood:

No data

Variant related genes	Relation type
QKI	TF binding region
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12110648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56377162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934643	1.00[AMR][1000 genomes]
rs6939555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6939751	1.00[AMR][1000 genomes]
rs73784468	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784479	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787632	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7742678	1.00[AMR][1000 genomes]
rs7753923	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9784871	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1791729	chr6:163814557-163836689	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1839403	chr6:163822296-163835490	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1793461	chr6:163822296-163836634	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1794611	chr6:163822296-163836689	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1796475	chr6:163822296-163836689	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1797016	chr6:163822296-163836689	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1801202	chr6:163822296-163836689	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv1801861	chr6:163822296-163836689	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv605193	chr6:163824864-163835490	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv605194	chr6:163824864-163836293	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv605195	chr6:163824864-163836634	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163827200-163833600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:163827200-163833600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:163827200-163833800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:163827200-163834200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:163827200-163834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:163827200-163834200	Weak transcription	Spleen	Spleen
7	chr6:163827400-163833000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:163827400-163833400	Weak transcription	HSMM	muscle
9	chr6:163827400-163833600	Weak transcription	Psoas Muscle	Psoas
10	chr6:163827400-163833600	Weak transcription	Right Atrium	heart
11	chr6:163827400-163833800	Weak transcription	Aorta	Aorta
12	chr6:163827600-163833400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:163827600-163833400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:163827600-163833400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:163827600-163833400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:163827600-163833400	Weak transcription	Fetal Lung	lung
17	chr6:163827600-163833400	Weak transcription	Fetal Stomach	stomach
18	chr6:163827600-163833400	Weak transcription	NHLF	lung
19	chr6:163827600-163833800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:163827800-163833400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:163827800-163833400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:163827800-163833400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:163827800-163833400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:163827800-163833400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:163828000-163833200	Weak transcription	HUVEC	blood vessel
26	chr6:163828000-163833600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:163828200-163833000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:163828200-163833400	Weak transcription	Liver	Liver
29	chr6:163828200-163833400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:163828200-163833400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:163828200-163833400	Weak transcription	Right Ventricle	heart
32	chr6:163828200-163833400	Weak transcription	GM12878-XiMat	blood
33	chr6:163828200-163833600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:163828600-163833000	Weak transcription	Adipose Nuclei	Adipose
35	chr6:163828800-163833200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:163828800-163833400	Weak transcription	NHDF-Ad	bronchial
37	chr6:163830200-163833200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:163830600-163833600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr6:163831200-163833400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:163831200-163833400	Enhancers	HepG2	liver
41	chr6:163831200-163834200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:163832000-163833000	Enhancers	Brain Anterior Caudate	brain
43	chr6:163832000-163833000	Enhancers	Brain Cingulate Gyrus	brain
44	chr6:163832000-163833000	Enhancers	HSMMtube	muscle
45	chr6:163832000-163833200	Enhancers	Fetal Heart	heart
46	chr6:163832200-163833200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:163832400-163833000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:163832400-163833400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr6:163832600-163833200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:163832600-163833200	Weak transcription	A549	lung

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