Variant report

Variant	rs9473967
Chromosome Location	chr6:13329536-13329537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr6:13329261-13329600	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:13327880-13329707	K562	blood:	n/a	n/a
3	POLR2A	chr6:13329489-13329596	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr6:13327898-13329931	K562	blood:	n/a	n/a
5	POLR2A	chr6:13327865-13329891	K562	blood:	n/a	n/a
6	POLR2A	chr6:13327917-13330219	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:13327512-13329954	PBDE	blood:	n/a	n/a
8	POLR2A	chr6:13329476-13329681	ProgFib	skin:	n/a	n/a
9	POLR2A	chr6:13328391-13329619	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr6:13328035-13329798	GM18505	blood:	n/a	n/a
11	MTA3	chr6:13327819-13329963	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:13327862-13329890	GM12891	blood:	n/a	n/a
13	POLR2A	chr6:13327980-13329974	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:13327897-13329886	K562	blood:	n/a	n/a
15	POLR2A	chr6:13327852-13329935	K562	blood:	n/a	n/a
16	POLR2A	chr6:13328304-13329605	GM19193	blood:	n/a	n/a
17	POLR2A	chr6:13329392-13329969	MCF-7	breast:	n/a	n/a
18	POLR2A	chr6:13329369-13329882	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:13327774-13330074	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr6:13327965-13329600	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13328120..13330665-chr6:45294928..45297649,2	MCF-7	breast:
2	chr6:13328740..13330326-chr6:13487032..13488615,2	K562	blood:
3	chr6:13328881..13330623-chr6:13484521..13487494,2	K562	blood:
4	chr20:3868685..3869558-chr6:13328646..13329638,2	HCT-116	colon:
5	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
6	chr6:13268970..13278598-chr6:13326296..13332818,15	K562	blood:
7	chr6:13327393..13331113-chr6:13573725..13577168,7	MCF-7	breast:
8	chr6:13329242..13331111-chr6:13335372..13336934,2	K562	blood:
9	chr6:13272205..13274313-chr6:13327989..13330165,3	K562	blood:
10	chr6:13329445..13333352-chr6:13573516..13577433,5	MCF-7	breast:
11	chr6:13328551..13330063-chr6:13614830..13616645,2	MCF-7	breast:
12	chr6:13327180..13330479-chr6:13614329..13617751,5	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D7	TF binding region
ENSG00000229539	Chromatin interaction
ENSG00000124813	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000125779	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000112137	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000187461	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9463668	1.00[AFR][1000 genomes]
rs9463682	0.84[AFR][1000 genomes]
rs9474004	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13327200-13329800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:13327400-13329600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:13327400-13329800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:13327400-13329800	Active TSS	Fetal Brain Male	brain
5	chr6:13327600-13329600	Active TSS	Brain Germinal Matrix	brain
6	chr6:13327600-13329800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:13327600-13329800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:13327600-13329800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:13327800-13329600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:13327800-13329600	Active TSS	Right Atrium	heart
11	chr6:13327800-13329600	Active TSS	NHLF	lung
12	chr6:13328000-13329600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:13328000-13329600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:13328000-13329600	Active TSS	HSMMtube	muscle
15	chr6:13328000-13329800	Active TSS	Left Ventricle	heart
16	chr6:13328800-13329800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr6:13329000-13329600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr6:13329000-13329600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr6:13329000-13329600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr6:13329000-13329600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:13329000-13329600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr6:13329000-13329600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:13329000-13329600	Flanking Active TSS	Fetal Brain Female	brain
24	chr6:13329000-13329600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:13329000-13329600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr6:13329000-13329600	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr6:13329000-13329600	Flanking Active TSS	Hela-S3	cervix
28	chr6:13329000-13329600	Flanking Active TSS	HMEC	breast
29	chr6:13329000-13329600	Flanking Active TSS	HUVEC	blood vessel
30	chr6:13329000-13329600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr6:13329000-13329600	Flanking Active TSS	NH-A	brain
32	chr6:13329000-13329800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr6:13329000-13329800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:13329000-13329800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr6:13329000-13329800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:13329000-13329800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:13329000-13329800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:13329000-13329800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:13329000-13329800	Flanking Active TSS	Dnd41	blood
40	chr6:13329200-13329600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:13329200-13329600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:13329200-13329600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:13329200-13329600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:13329200-13329600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:13329200-13329600	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr6:13329200-13329600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr6:13329200-13329600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:13329200-13329600	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr6:13329200-13329600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr6:13329200-13329600	Flanking Active TSS	Brain Hippocampus Middle	brain

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