Variant report

Variant	rs13195550
Chromosome Location	chr6:143159284-143159285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:143159155-143159434	GM12878	blood:	n/a	n/a
2	STAT3	chr6:143159208-143160399	MCF10A-Er-Src	breast:	n/a	chr6:143160117-143160125 chr6:143159791-143159814

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143145676..143148606-chr6:143158405..143160866,2	K562	blood:
2	chr6:143153290..143155432-chr6:143159116..143161535,2	MCF-7	breast:

Variant related genes	Relation type
HIVEP2	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13208190	0.84[JPT][hapmap]
rs13209704	0.80[AMR][1000 genomes]
rs28743065	0.83[AMR][1000 genomes]
rs728035	0.85[AMR][1000 genomes]
rs9403408	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13195550	HIVEP2	cis	cerebellum	SCAN
rs13195550	REPS1	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143143400-143159600	Weak transcription	HepG2	liver
2	chr6:143143400-143160600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:143144000-143165800	Weak transcription	Liver	Liver
4	chr6:143144600-143163000	Weak transcription	Dnd41	blood
5	chr6:143144600-143163200	Weak transcription	Fetal Thymus	thymus
6	chr6:143144800-143162400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:143144800-143163000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:143144800-143166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:143149200-143166000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:143149400-143163200	Weak transcription	Adipose Nuclei	Adipose
11	chr6:143149400-143163600	Weak transcription	Fetal Lung	lung
12	chr6:143149600-143165600	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:143151400-143163200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:143152000-143163400	Weak transcription	Thymus	Thymus
15	chr6:143152200-143160600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:143152400-143160600	Weak transcription	Left Ventricle	heart
17	chr6:143152400-143160600	Weak transcription	Spleen	Spleen
18	chr6:143152400-143160800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:143152400-143160800	Weak transcription	Right Ventricle	heart
20	chr6:143152600-143160600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:143152600-143160600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:143152600-143163000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:143152800-143160200	Weak transcription	Fetal Intestine Small	intestine
24	chr6:143152800-143163600	Weak transcription	Fetal Stomach	stomach
25	chr6:143154200-143160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:143154400-143160600	Weak transcription	Psoas Muscle	Psoas
27	chr6:143154600-143159400	Weak transcription	A549	lung
28	chr6:143154600-143160400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:143154600-143160600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:143154600-143163000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:143154600-143163600	Weak transcription	Aorta	Aorta
32	chr6:143154800-143159600	Weak transcription	Stomach Mucosa	stomach
33	chr6:143154800-143160600	Weak transcription	HSMM	muscle
34	chr6:143155000-143160000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:143155000-143160000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:143155000-143162600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:143155200-143159800	Weak transcription	HUVEC	blood vessel
38	chr6:143155200-143159800	Weak transcription	NH-A	brain
39	chr6:143155400-143159800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:143155400-143159800	Weak transcription	Osteobl	bone
41	chr6:143155400-143160000	Weak transcription	NHDF-Ad	bronchial
42	chr6:143155400-143160800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:143155400-143162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:143155400-143162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:143155800-143163400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:143156600-143159400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:143156600-143159600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:143157000-143159800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr6:143157000-143160200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:143157000-143163000	Enhancers	Primary T helper cells fromperipheralblood	blood

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