Variant report

Variant	rs167772
Chromosome Location	chr6:44280812-44280813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44224914..44225770-chr6:44280677..44281261,3	MCF-7	breast:
2	chr6:44214136..44216298-chr6:44277914..44280865,2	MCF-7	breast:
3	chr6:44279584..44282464-chr6:44309477..44312125,3	K562	blood:
4	chr6:44279514..44281028-chr6:44297693..44300228,2	K562	blood:
5	chr6:43543539..43545353-chr6:44279457..44282197,2	K562	blood:
6	chr6:44279579..44281700-chr6:44353800..44356317,2	K562	blood:
7	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:
8	chr6:44252002..44254042-chr6:44279257..44280939,2	MCF-7	breast:
9	chr6:44094789..44097209-chr6:44279267..44280839,2	K562	blood:
10	chr6:44234588..44237594-chr6:44277478..44280850,3	MCF-7	breast:
11	chr6:44231156..44234544-chr6:44279395..44281173,3	MCF-7	breast:
12	chr6:44225027..44225577-chr6:44280726..44281268,2	MCF-7	breast:
13	chr6:44279512..44282294-chr6:44355146..44356851,3	MCF-7	breast:
14	chr6:44279978..44282464-chr6:44309513..44313447,3	K562	blood:
15	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
16	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
17	chr6:27100651..27101374-chr6:44280647..44281426,2	Hela-S3	cervix:
18	chr6:44105821..44107661-chr6:44279875..44282233,2	MCF-7	breast:
19	chr6:44223815..44226053-chr6:44279566..44282424,2	MCF-7	breast:
20	chr6:44231603..44235224-chr6:44277267..44282023,5	MCF-7	breast:
21	chr6:44261562..44267016-chr6:44278207..44281216,9	MCF-7	breast:
22	chr6:43740118..43741920-chr6:44279572..44281289,2	K562	blood:
23	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000265700	Chromatin interaction
ENSG00000096401	Chromatin interaction
ENSG00000124571	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000170734	Chromatin interaction
ENSG00000249481	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000180992	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs324137	0.92[CEU][hapmap];0.80[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs325001	0.92[CEU][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs325004	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3818685	0.80[CEU][hapmap];0.81[CHD][hapmap];0.84[EUR][1000 genomes]
rs498512	0.81[JPT][hapmap]
rs513688	0.84[CHD][hapmap]
rs639728	0.84[CHD][hapmap]
rs651297	0.91[CHD][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs167772	CD2AP	cis	cerebellum	SCAN
rs167772	TCTE1	cis	parietal	SCAN
rs167772	TCTE1	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44279600-44281400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:44279800-44281000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr6:44280000-44281200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:44280000-44281200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:44280000-44281600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:44280200-44281000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr6:44280200-44281000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:44280200-44281200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:44280200-44281200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:44280200-44281200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:44280200-44281400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:44280200-44281400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:44280200-44281400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:44280200-44281400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:44280200-44281400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:44280200-44281400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:44280200-44281400	Active TSS	Ovary	ovary
18	chr6:44280200-44281400	Active TSS	A549	lung
19	chr6:44280200-44281400	Active TSS	NHDF-Ad	bronchial
20	chr6:44280200-44281600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:44280200-44281600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:44280400-44281000	Active TSS	Fetal Brain Male	brain
23	chr6:44280400-44281000	Active TSS	Fetal Heart	heart
24	chr6:44280400-44281000	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr6:44280400-44281200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:44280400-44281200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:44280400-44281200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:44280400-44281200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:44280400-44281200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:44280400-44281200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:44280400-44281200	Active TSS	Aorta	Aorta
32	chr6:44280400-44281200	Active TSS	Liver	Liver
33	chr6:44280400-44281200	Active TSS	Brain Angular Gyrus	brain
34	chr6:44280400-44281200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr6:44280400-44281200	Active TSS	Colonic Mucosa	Colon
36	chr6:44280400-44281200	Active TSS	Esophagus	oesophagus
37	chr6:44280400-44281200	Active TSS	Fetal Intestine Large	intestine
38	chr6:44280400-44281200	Active TSS	Fetal Intestine Small	intestine
39	chr6:44280400-44281200	Active TSS	Fetal Lung	lung
40	chr6:44280400-44281200	Active TSS	Fetal Stomach	stomach
41	chr6:44280400-44281200	Active TSS	Left Ventricle	heart
42	chr6:44280400-44281200	Active TSS	Lung	lung
43	chr6:44280400-44281200	Active TSS	Pancreas	Pancrea
44	chr6:44280400-44281200	Active TSS	Placenta Amnion	Placenta Amnion
45	chr6:44280400-44281200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr6:44280400-44281200	Active TSS	Small Intestine	intestine
47	chr6:44280400-44281200	Active TSS	Stomach Mucosa	stomach
48	chr6:44280400-44281200	Active TSS	Dnd41	blood
49	chr6:44280400-44281200	Active TSS	HSMMtube	muscle
50	chr6:44280400-44281400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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