Variant report

Variant	rs1711170
Chromosome Location	chr3:136020975-136020976
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136014329..136016765-chr3:136018806..136021350,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10935182	0.81[JPT][hapmap]
rs10935184	0.86[JPT][hapmap]
rs1145106	0.81[JPT][hapmap]
rs1153877	0.86[JPT][hapmap]
rs11715257	0.81[JPT][hapmap]
rs1279086	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1279425	0.86[JPT][hapmap]
rs1279840	0.86[JPT][hapmap]
rs1394092	0.86[JPT][hapmap]
rs1711171	0.86[JPT][hapmap]
rs2655008	0.81[JPT][hapmap]
rs3755636	0.86[JPT][hapmap]
rs4678428	0.86[JPT][hapmap]
rs483465	0.86[JPT][hapmap]
rs518972	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs527888	0.81[ASN][1000 genomes]
rs548288	0.86[JPT][hapmap]
rs553018	0.81[ASN][1000 genomes]
rs556788	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs571513	0.86[JPT][hapmap]
rs576771	0.81[JPT][hapmap]
rs589092	0.86[JPT][hapmap]
rs606725	0.86[JPT][hapmap]
rs619605	0.81[JPT][hapmap]
rs650326	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs654237	0.81[JPT][hapmap]
rs655836	0.81[JPT][hapmap]
rs667920	0.86[JPT][hapmap]
rs695983	0.81[JPT][hapmap]
rs696081	0.86[JPT][hapmap]
rs696516	0.81[JPT][hapmap]
rs696518	0.81[JPT][hapmap]
rs696520	0.86[JPT][hapmap]
rs698270	0.81[JPT][hapmap]
rs838202	0.81[ASN][1000 genomes]
rs900048	0.81[JPT][hapmap]
rs9854084	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv508246	chr3:135922023-136038622	Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	nsv4025	chr3:136017458-136065622	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv3461178	chr3:136019062-136028160	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3489487	chr3:136019912-136027310	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3489488	chr3:136020287-136027210	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3461177	chr3:136020287-136027435	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3461183	chr3:136020583-136026439	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv821587	chr3:136020588-136026934	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3489489	chr3:136020727-136026434	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3461181	chr3:136020762-136026710	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv12453	chr3:136020773-136026295	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv9585	chr3:136020773-136026460	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3461182	chr3:136020882-136026291	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3489483	chr3:136020912-136026307	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3489482	chr3:136020922-136026288	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3489486	chr3:136020927-136026247	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3461179	chr3:136020935-136026268	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv3461184	chr3:136020938-136026285	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3461180	chr3:136020947-136026227	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3489484	chr3:136020957-136026246	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv1802750	chr3:136020975-136023854	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv591830	chr3:136020975-136025231	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv591831	chr3:136020975-136025930	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv591832	chr3:136020975-136025982	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv1798959	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv1799725	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv1816042	chr3:136020975-136026101	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv1816240	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	esv1817866	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	esv1819410	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	esv1820470	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	esv1822365	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	esv1822600	chr3:136020975-136026101	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	esv1835583	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
37	esv1840908	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
38	esv1841267	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
39	esv1842676	chr3:136020975-136026101	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
40	esv1844996	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
41	esv1845906	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
42	esv1846228	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
43	esv1846453	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
44	esv1847668	chr3:136020975-136026101	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
45	esv1847990	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
46	esv1851729	chr3:136020975-136026101	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
47	esv1851813	chr3:136020975-136026101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
48	nsv591833	chr3:136020975-136026101	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
49	nsv591834	chr3:136020975-136027549	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
50	nsv591835	chr3:136020975-136027640	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1711170	PCCB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135970600-136039400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:135976200-136021600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:135981200-136052000	Weak transcription	NH-A	brain
4	chr3:135998000-136040200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:135999800-136038200	Weak transcription	Fetal Brain Male	brain
6	chr3:135999800-136061200	Weak transcription	Hela-S3	cervix
7	chr3:136000000-136024600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:136000200-136038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:136004600-136021400	Weak transcription	HMEC	breast
10	chr3:136004600-136022000	Weak transcription	NHDF-Ad	bronchial
11	chr3:136009400-136023000	Strong transcription	Dnd41	blood
12	chr3:136010000-136021000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:136010000-136021000	Strong transcription	Liver	Liver
14	chr3:136010200-136021200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:136010400-136021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:136010400-136021000	Strong transcription	Fetal Muscle Leg	muscle
17	chr3:136010400-136021000	Strong transcription	Fetal Stomach	stomach
18	chr3:136010600-136031400	Weak transcription	Stomach Mucosa	stomach
19	chr3:136011000-136024600	Weak transcription	Psoas Muscle	Psoas
20	chr3:136011800-136021000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:136012000-136021200	Strong transcription	Brain Substantia Nigra	brain
22	chr3:136012200-136021000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:136012200-136021200	Strong transcription	Brain Hippocampus Middle	brain
24	chr3:136012200-136021200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr3:136012400-136021200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr3:136012600-136021000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:136012600-136024800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr3:136013600-136022000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:136014200-136040000	Weak transcription	Small Intestine	intestine
30	chr3:136014600-136021000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:136015000-136038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:136015200-136021200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:136015400-136022000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:136015800-136021000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr3:136015800-136021000	Strong transcription	Fetal Intestine Small	intestine
36	chr3:136015800-136021000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr3:136015800-136021000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:136015800-136021200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:136016000-136021200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:136016000-136021200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:136016200-136021000	Strong transcription	Brain Anterior Caudate	brain
42	chr3:136016400-136021000	Strong transcription	Gastric	stomach
43	chr3:136016400-136021000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr3:136016400-136021000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:136016400-136021000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:136016400-136038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:136016600-136021000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:136016600-136022200	Weak transcription	NHLF	lung
49	chr3:136016800-136045600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:136017000-136022200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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