Variant report

Variant	rs12748157
Chromosome Location	chr1:161024822-161024823
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161022923..161025927-chr1:161065904..161068194,3	MCF-7	breast:
2	chr1:161018354..161021283-chr1:161024769..161026655,3	K562	blood:
3	chr1:161024286..161026586-chr1:161059116..161061202,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143217	Chromatin interaction
ENSG00000162755	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12728349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073657	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516837	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516839	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2774273	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34212386	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3813609	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3813610	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3829791	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12748157	TSTD1	cis	Artery Tibial	GTEx
rs12748157	F11R	Cis_1M	lymphoblastoid	RTeQTL
rs12748157	TSTD1,F11R	cis	cerebellar cortex	BrainEAC

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161016400-161037800	Weak transcription	Colonic Mucosa	Colon
2	chr1:161016600-161028000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:161016800-161029200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:161017000-161029400	Strong transcription	Primary T cells from cord blood	blood
5	chr1:161017000-161031600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:161017000-161032200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:161017200-161029200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:161017200-161030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:161017400-161027400	Strong transcription	Primary hematopoietic stem cells	blood
10	chr1:161017400-161027400	Strong transcription	Dnd41	blood
11	chr1:161017400-161030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:161017400-161031000	Strong transcription	Thymus	Thymus
13	chr1:161017600-161034400	Strong transcription	Fetal Thymus	thymus
14	chr1:161017800-161026200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:161018000-161025800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:161018000-161027400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:161018200-161026800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:161018400-161026000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:161018400-161026400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:161018400-161027400	Strong transcription	GM12878-XiMat	blood
21	chr1:161018600-161032400	Strong transcription	Primary B cells from cord blood	blood
22	chr1:161018600-161033600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:161018800-161028200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:161019000-161026600	Strong transcription	Placenta	Placenta
25	chr1:161019400-161026000	Strong transcription	Spleen	Spleen
26	chr1:161019400-161029400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:161019800-161025800	Weak transcription	Liver	Liver
28	chr1:161020800-161027400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:161021000-161025200	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr1:161021400-161026000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:161021400-161034000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:161021600-161025000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:161021600-161029400	Weak transcription	Stomach Mucosa	stomach
34	chr1:161021600-161033000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:161021600-161038400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:161022600-161028200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:161022800-161026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:161022800-161029200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:161022800-161031800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:161023200-161029800	Weak transcription	Gastric	stomach
41	chr1:161024200-161025000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr1:161024400-161025400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr1:161024400-161030600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:161024600-161025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:161024600-161026000	Weak transcription	Esophagus	oesophagus
46	chr1:161024800-161026200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:161024800-161038200	Weak transcription	Lung	lung

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