Variant report

Variant	rs3818685
Chromosome Location	chr6:44280281-44280282
allele	A/G
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44279048..44280754-chr6:44413022..44414721,2	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	chr6:44279512..44282294-chr6:44355146..44356851,3	MCF-7	breast:
13	chr6:44279978..44282464-chr6:44309513..44313447,3	K562	blood:
14	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
15	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
16	chr6:44216338..44218124-chr6:44278260..44280536,2	MCF-7	breast:
17	chr6:44105821..44107661-chr6:44279875..44282233,2	MCF-7	breast:
18	chr6:44223815..44226053-chr6:44279566..44282424,2	MCF-7	breast:
19	chr6:44231603..44235224-chr6:44277267..44282023,5	MCF-7	breast:
20	chr6:44261562..44267016-chr6:44278207..44281216,9	MCF-7	breast:
21	chr6:43740118..43741920-chr6:44279572..44281289,2	K562	blood:
22	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs167772	0.80[CEU][hapmap];0.81[CHD][hapmap];0.84[EUR][1000 genomes]
rs324137	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.86[EUR][1000 genomes]
rs325001	0.89[CEU][hapmap];0.86[CHD][hapmap];0.85[EUR][1000 genomes]
rs325004	0.85[EUR][1000 genomes]
rs513688	0.80[CHD][hapmap]
rs651297	0.86[CHD][hapmap]
rs9688508	0.83[ASW][hapmap];0.84[LWK][hapmap];0.89[YRI][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3818685	TCTE1	cis	parietal	SCAN
rs3818685	TCTE1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44279200-44280400	Weak transcription	Aorta	Aorta
2	chr6:44279600-44280400	Enhancers	Gastric	stomach
3	chr6:44279600-44280400	Flanking Active TSS	GM12878-XiMat	blood
4	chr6:44279600-44280600	Enhancers	Spleen	Spleen
5	chr6:44279600-44281400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:44279800-44280400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:44279800-44280400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:44279800-44280400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:44279800-44280400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr6:44279800-44280400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:44279800-44280400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:44279800-44280400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:44279800-44280400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:44279800-44280400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:44279800-44280400	Flanking Active TSS	Esophagus	oesophagus
16	chr6:44279800-44280400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:44279800-44280400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:44279800-44280400	Flanking Active TSS	Hela-S3	cervix
19	chr6:44279800-44280400	Transcr. at gene 5' and 3'	HSMM	muscle
20	chr6:44279800-44280400	Flanking Active TSS	NHLF	lung
21	chr6:44279800-44280600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:44279800-44280600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr6:44279800-44280600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:44279800-44280600	Flanking Active TSS	Fetal Brain Female	brain
25	chr6:44279800-44280600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr6:44279800-44281000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr6:44280000-44280400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:44280000-44280400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:44280000-44280400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:44280000-44280400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:44280000-44280400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:44280000-44280400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr6:44280000-44280400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:44280000-44280400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr6:44280000-44280400	Enhancers	Primary B cells from peripheral blood	blood
36	chr6:44280000-44280400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr6:44280000-44280400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:44280000-44280400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:44280000-44280400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:44280000-44280400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:44280000-44280400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr6:44280000-44280400	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr6:44280000-44280400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr6:44280000-44280400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr6:44280000-44280400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:44280000-44280400	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr6:44280000-44280400	Flanking Active TSS	Fetal Lung	lung
48	chr6:44280000-44280400	Enhancers	Left Ventricle	heart
49	chr6:44280000-44280400	Flanking Active TSS	Pancreas	Pancrea
50	chr6:44280000-44280400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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