Variant report

Variant	rs10935199
Chromosome Location	chr3:136563535-136563536
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136557267..136559403-chr3:136563410..136566256,3	K562	blood:

Variant related genes	Relation type
ENSG00000273486	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12486911	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1609391	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17366234	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28458819	0.82[EUR][1000 genomes]
rs34799319	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4420814	0.80[EUR][1000 genomes]
rs4678441	0.84[EUR][1000 genomes]
rs4678442	0.84[EUR][1000 genomes]
rs56695781	0.81[EUR][1000 genomes]
rs60574021	0.82[EUR][1000 genomes]
rs67782618	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6802291	0.82[EUR][1000 genomes]
rs7621932	0.81[EUR][1000 genomes]
rs7633629	0.81[EUR][1000 genomes]
rs9757179	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877530	chr3:136514310-136604697	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
2	nsv877531	chr3:136517016-136662954	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv877532	chr3:136526939-136662603	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv877533	chr3:136539689-136662954	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10935199	PCCB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136551600-136574000	Weak transcription	HepG2	liver
2	chr3:136552400-136570800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:136552600-136579400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:136554800-136578400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:136554800-136579400	Weak transcription	Fetal Lung	lung
6	chr3:136555000-136574000	Weak transcription	Ovary	ovary
7	chr3:136555200-136564600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:136555400-136579200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:136555600-136577800	Weak transcription	Lung	lung
10	chr3:136555600-136579200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr3:136555600-136580000	Weak transcription	Esophagus	oesophagus
12	chr3:136556000-136573400	Weak transcription	GM12878-XiMat	blood
13	chr3:136558200-136565000	Weak transcription	Primary T cells from cord blood	blood
14	chr3:136558200-136565400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:136558200-136575600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:136558200-136579200	Weak transcription	NHDF-Ad	bronchial
17	chr3:136558400-136563600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:136558400-136563600	Weak transcription	Primary B cells from cord blood	blood
19	chr3:136558400-136565600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:136558400-136573600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:136558400-136579400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:136558400-136579400	Weak transcription	Fetal Intestine Large	intestine
23	chr3:136558400-136579600	Weak transcription	NHEK	skin
24	chr3:136558600-136564600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:136558600-136570800	Weak transcription	Brain Substantia Nigra	brain
26	chr3:136558600-136573800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:136558600-136575600	Weak transcription	Aorta	Aorta
28	chr3:136558600-136578000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:136558600-136578400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:136558600-136578800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:136558600-136579200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:136558600-136579200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:136558600-136579600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:136558600-136579600	Weak transcription	Liver	Liver
35	chr3:136558600-136579600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:136558600-136579600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:136558600-136579800	Weak transcription	HSMM	muscle
38	chr3:136558800-136573600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:136558800-136573800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:136558800-136574000	Weak transcription	Brain Germinal Matrix	brain
41	chr3:136558800-136578600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:136558800-136578800	Weak transcription	HMEC	breast
43	chr3:136558800-136579000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:136558800-136579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:136558800-136579400	Weak transcription	Pancreas	Pancrea
46	chr3:136559000-136564400	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:136559000-136565200	Weak transcription	Brain Anterior Caudate	brain
48	chr3:136559000-136573600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:136559000-136575400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:136559000-136579400	Weak transcription	Brain Angular Gyrus	brain

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