Variant report

Variant	rs11961047
Chromosome Location	chr6:37103939-37103940
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37069809..37073180-chr6:37101170..37104967,5	MCF-7	breast:
2	chr6:37097868..37100736-chr6:37102286..37104277,4	MCF-7	breast:
3	chr6:37023016..37028102-chr6:37100867..37105079,9	MCF-7	breast:
4	chr6:37103418..37107139-chr6:37107617..37110665,3	K562	blood:
5	chr6:37094180..37096669-chr6:37102070..37104012,2	K562	blood:
6	chr6:37097945..37100004-chr6:37103434..37105888,2	MCF-7	breast:
7	chr6:37069334..37071382-chr6:37103565..37107172,5	MCF-7	breast:
8	chr6:37100437..37107412-chr6:37134497..37140712,18	MCF-7	breast:
9	chr6:37101448..37105866-chr6:37106626..37109190,5	MCF-7	breast:
10	chr6:37038270..37040946-chr6:37102202..37104279,3	MCF-7	breast:
11	chr6:37100909..37108375-chr6:37132663..37140432,15	MCF-7	breast:
12	chr6:37103433..37108249-chr6:37120409..37124789,4	MCF-7	breast:
13	chr6:37022707..37025816-chr6:37101258..37104002,3	MCF-7	breast:
14	chr6:37102809..37104750-chr6:37113776..37116155,3	K562	blood:
15	chr6:37103146..37104680-chr6:37125026..37127175,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10498737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947658	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947659	0.86[ASW][hapmap];1.00[CEU][hapmap];0.85[MEX][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs12196469	0.82[EUR][1000 genomes]
rs12210148	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs2395668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.91[EUR][1000 genomes]
rs56410799	1.00[ASN][1000 genomes]
rs72849090	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462263	0.90[EUR][1000 genomes]
rs9462264	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs9462265	0.87[EUR][1000 genomes]
rs9470449	1.00[CHB][hapmap]
rs9470488	0.91[EUR][1000 genomes]
rs9470491	0.93[EUR][1000 genomes]
rs9470493	0.92[CEU][hapmap];1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11961047	TREML2	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37096800-37104800	Weak transcription	Right Ventricle	heart
2	chr6:37098600-37104600	Weak transcription	GM12878-XiMat	blood
3	chr6:37099600-37105200	Weak transcription	Ovary	ovary
4	chr6:37100000-37104800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:37100000-37104800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:37101400-37104000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr6:37101400-37104000	Enhancers	Placenta	Placenta
8	chr6:37101400-37104200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:37101400-37104800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:37101400-37106000	Enhancers	Stomach Mucosa	stomach
11	chr6:37101400-37106200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:37101400-37106400	Enhancers	NHDF-Ad	bronchial
13	chr6:37101400-37108200	Enhancers	Fetal Stomach	stomach
14	chr6:37101600-37104800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:37101600-37104800	Enhancers	Fetal Intestine Small	intestine
16	chr6:37101600-37104800	Enhancers	NHLF	lung
17	chr6:37101600-37105000	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:37101600-37105200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:37101600-37106200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:37101600-37106200	Enhancers	HMEC	breast
21	chr6:37101800-37104000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:37101800-37104800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:37101800-37105400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr6:37102000-37104200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:37102000-37104800	Enhancers	Liver	Liver
26	chr6:37102000-37105000	Enhancers	Fetal Intestine Large	intestine
27	chr6:37102400-37104800	Weak transcription	Aorta	Aorta
28	chr6:37102600-37104800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:37102800-37104000	Weak transcription	Fetal Kidney	kidney
30	chr6:37102800-37105000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:37102800-37105000	Weak transcription	Brain Anterior Caudate	brain
32	chr6:37102800-37105400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:37103000-37104000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:37103000-37104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:37103000-37104000	Enhancers	A549	lung
36	chr6:37103000-37104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:37103000-37104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:37103000-37104200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:37103000-37104200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:37103000-37104200	Weak transcription	Adipose Nuclei	Adipose
41	chr6:37103000-37104200	Enhancers	NH-A	brain
42	chr6:37103000-37104400	Weak transcription	Colonic Mucosa	Colon
43	chr6:37103000-37104400	Weak transcription	Fetal Brain Female	brain
44	chr6:37103000-37104400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:37103000-37104600	Weak transcription	Brain Germinal Matrix	brain
46	chr6:37103000-37104600	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:37103000-37104600	Weak transcription	Pancreas	Pancrea
48	chr6:37103000-37104600	Enhancers	Hela-S3	cervix
49	chr6:37103000-37104800	Weak transcription	Right Atrium	heart
50	chr6:37103000-37105000	Enhancers	Muscle Satellite Cultured Cells	--

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