Variant report

Variant	rs1196350
Chromosome Location	chr1:151599267-151599268
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151592380..151594308-chr1:151598535..151600232,2	MCF-7	breast:
2	1:151516085-151535167..1:151592347-151603110	GM12878	blood:
3	1:151333184-151350267..1:151592347-151603110	K562	blood:
4	1:151592347-151603110..1:151618750-151636526	Hela-S3	cervix:
5	1:151368336-151375897..1:151592347-151603110	Hela-S3	cervix:
6	1:151203965-151215310..1:151592347-151603110	Hela-S3	cervix:
7	1:151411623-151426875..1:151592347-151603110	GM12878	blood:
8	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
9	1:151219411-151234038..1:151592347-151603110	K562	blood:
10	1:151496437-151509688..1:151592347-151603110	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000143416	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000224645	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1048694	0.80[MEX][hapmap]
rs11808761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs1196357	0.80[MEX][hapmap]
rs1196462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs1196466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[ASN][1000 genomes]
rs1196468	0.87[ASN][1000 genomes]
rs1196469	0.86[YRI][hapmap]
rs1201651	0.80[MEX][hapmap]
rs1211981	0.80[MEX][hapmap];0.89[MKK][hapmap]
rs12122920	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12128050	0.86[ASN][1000 genomes]
rs12723676	0.82[ASN][1000 genomes]
rs12758387	0.81[CEU][hapmap]
rs1308145	0.80[MEX][hapmap]
rs1308150	1.00[YRI][hapmap]
rs1891589	0.80[MEX][hapmap];0.89[MKK][hapmap]
rs2096402	0.81[CEU][hapmap]
rs2495392	0.80[MEX][hapmap]
rs3466	0.81[GIH][hapmap]
rs35086333	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790512	0.84[MKK][hapmap]
rs4043740	0.81[CEU][hapmap]
rs4845339	0.80[CEU][hapmap]
rs61818467	0.83[ASN][1000 genomes]
rs6587615	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs6587617	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs6696250	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs878775	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs939592	0.85[CEU][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1196350	MTMR11	cis	cerebellum	SCAN
rs1196350	LCE1C	cis	parietal	SCAN
rs1196350	GATAD2B	cis	cerebellum	SCAN
rs1196350	TDRKH	cis	cerebellum	SCAN
rs1196350	FLG2	cis	cerebellum	SCAN
rs1196350	LYSMD1	cis	parietal	SCAN
rs1196350	SPRR2B	cis	cerebellum	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151586400-151600600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:151586400-151610200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:151586400-151610400	Weak transcription	Left Ventricle	heart
4	chr1:151586400-151611400	Weak transcription	Esophagus	oesophagus
5	chr1:151586400-151622200	Weak transcription	Fetal Thymus	thymus
6	chr1:151586400-151626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:151586600-151603000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:151586600-151605600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:151587600-151599400	Weak transcription	Ovary	ovary
10	chr1:151587600-151640600	Weak transcription	Fetal Brain Male	brain
11	chr1:151588000-151626600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:151588200-151600600	Weak transcription	Primary B cells from cord blood	blood
13	chr1:151588200-151620600	Weak transcription	Brain Germinal Matrix	brain
14	chr1:151588200-151665200	Weak transcription	Aorta	Aorta
15	chr1:151588600-151600200	Weak transcription	Primary T cells from cord blood	blood
16	chr1:151588600-151600800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:151588600-151611400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:151588600-151611400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:151589000-151617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:151589000-151620600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:151589600-151600600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:151589600-151613200	Weak transcription	Dnd41	blood
23	chr1:151591000-151630800	Weak transcription	Fetal Kidney	kidney
24	chr1:151591200-151675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:151591400-151600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:151592000-151609800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:151592000-151611400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:151592000-151622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:151592200-151609800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:151592400-151611400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:151592600-151606800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:151592600-151607400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:151592600-151609800	Weak transcription	NH-A	brain
34	chr1:151592600-151610200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:151592600-151611200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:151592600-151611200	Weak transcription	Fetal Intestine Large	intestine
37	chr1:151592600-151611800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:151592600-151613200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:151592600-151613600	Weak transcription	NHEK	skin
40	chr1:151592600-151613800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:151592600-151633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:151592800-151610000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:151592800-151610200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:151592800-151630600	Weak transcription	Hela-S3	cervix
45	chr1:151593000-151600800	Weak transcription	Fetal Brain Female	brain
46	chr1:151593000-151601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:151593000-151606600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:151593000-151611400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:151593200-151606600	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:151593200-151606600	Weak transcription	Fetal Lung	lung

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