Variant report

Variant	rs34438032
Chromosome Location	chr3:136337029-136337030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136336725..136338284-chr3:136470870..136472665,2	K562	blood:
2	chr3:136336725..136341978-chr3:136470555..136473265,5	K562	blood:

Variant related genes	Relation type
ENSG00000118007	Chromatin interaction
ENSG00000261758	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1017882	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1070228	0.82[EUR][1000 genomes]
rs10935185	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10935186	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919030	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12163529	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2688600	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2688601	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4038587	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4408829	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4521165	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4630889	0.88[AMR][1000 genomes]
rs4678436	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55970317	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6439649	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6791142	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6808312	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73228043	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7427564	0.91[AMR][1000 genomes]
rs7432375	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7618518	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7618871	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7634476	0.90[ASN][1000 genomes]
rs7637129	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs940174	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34438032	PCCB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136248200-136349200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:136268200-136351200	Weak transcription	Esophagus	oesophagus
3	chr3:136283800-136341800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:136284400-136337800	Weak transcription	Fetal Kidney	kidney
5	chr3:136286800-136343600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:136289600-136341800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:136290000-136351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:136297200-136345400	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:136297200-136351200	Weak transcription	Pancreas	Pancrea
10	chr3:136298600-136351600	Weak transcription	HSMM	muscle
11	chr3:136300200-136351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:136305200-136339400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:136305800-136338000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:136305800-136343800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:136306000-136341400	Weak transcription	Stomach Mucosa	stomach
16	chr3:136306200-136341800	Weak transcription	Fetal Brain Female	brain
17	chr3:136306200-136343400	Weak transcription	HepG2	liver
18	chr3:136308000-136357400	Weak transcription	Lung	lung
19	chr3:136313400-136344000	Weak transcription	Fetal Heart	heart
20	chr3:136315200-136343800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:136315400-136356400	Weak transcription	Brain Anterior Caudate	brain
22	chr3:136315800-136343600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:136315800-136344400	Weak transcription	Small Intestine	intestine
24	chr3:136315800-136346800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr3:136315800-136355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:136315800-136361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:136316000-136364400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:136318400-136342000	Weak transcription	Brain Substantia Nigra	brain
29	chr3:136319000-136344000	Weak transcription	NH-A	brain
30	chr3:136320600-136338200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:136320600-136338200	Weak transcription	Thymus	Thymus
32	chr3:136320800-136343800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:136320800-136356800	Weak transcription	Ovary	ovary
34	chr3:136322000-136339200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:136322200-136355200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:136323200-136338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:136323200-136347000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:136323400-136343400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:136323400-136347200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:136323400-136362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:136323600-136343800	Weak transcription	Hela-S3	cervix
42	chr3:136323800-136347000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:136324200-136346600	Weak transcription	Primary B cells from cord blood	blood
44	chr3:136324200-136363600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:136324400-136340200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:136324400-136343200	Weak transcription	HUVEC	blood vessel
47	chr3:136327400-136337800	Weak transcription	Fetal Lung	lung
48	chr3:136327400-136357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr3:136327600-136343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:136327600-136343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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