Variant report

Variant	rs2063510
Chromosome Location	chr12:122803491-122803492
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	chr12:122797956..122799865-chr12:122801211..122803514,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10270	0.83[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12423987	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs12424872	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs12578815	0.81[JPT][hapmap]
rs12580084	0.83[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs12814923	0.86[JPT][hapmap]
rs12816499	0.85[JPT][hapmap]
rs12820704	0.84[JPT][hapmap]
rs12822121	0.86[JPT][hapmap]
rs12824701	0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12824925	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs12825149	0.80[CHD][hapmap];0.90[JPT][hapmap]
rs12825279	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs12828234	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1512023	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs2068223	0.81[JPT][hapmap]
rs2271409	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs2277332	0.87[ASW][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs34325222	0.83[ASN][1000 genomes]
rs3782154	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3809116	0.81[JPT][hapmap]
rs4567503	0.88[ASW][hapmap];1.00[JPT][hapmap]
rs4758649	0.86[JPT][hapmap]
rs4758650	0.88[ASW][hapmap];0.83[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs4758670	0.88[ASW][hapmap];0.87[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59734396	0.84[AMR][1000 genomes]
rs7388	0.86[JPT][hapmap]
rs7962385	0.88[ASW][hapmap];0.83[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap]
rs7963565	0.88[ASW][hapmap];0.83[CEU][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap]
rs7964911	0.81[ASN][1000 genomes]
rs7970027	1.00[ASW][hapmap];0.83[CEU][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes]
rs907482	0.83[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2063510	IL31	cis	parietal	SCAN
rs2063510	GPR109A	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:122775600-122833600	Strong transcription	Liver	Liver
7	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:122778000-122808800	Weak transcription	Fetal Heart	heart
9	chr12:122780000-122827200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:122780400-122812000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:122780400-122812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:122781400-122821400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:122782800-122803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:122785800-122827200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:122787000-122803800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:122787200-122809000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr12:122787400-122803600	Weak transcription	Stomach Mucosa	stomach
18	chr12:122787800-122804400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:122788200-122821200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:122790000-122810800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:122791200-122841600	Strong transcription	Placenta	Placenta
22	chr12:122792400-122819800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:122793400-122810600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:122794600-122811800	Weak transcription	Small Intestine	intestine
25	chr12:122794600-122832600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:122795600-122810600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:122795800-122818200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:122796200-122808600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:122796400-122804000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:122796600-122804000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:122796800-122804200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:122796800-122808600	Strong transcription	Fetal Stomach	stomach
33	chr12:122797000-122803800	Strong transcription	Lung	lung
34	chr12:122797000-122808800	Strong transcription	Fetal Intestine Small	intestine
35	chr12:122797200-122805200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:122797200-122814000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:122797200-122822400	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:122797400-122804200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:122797400-122808600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:122797600-122803600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:122797600-122804200	Strong transcription	Fetal Brain Female	brain
42	chr12:122797600-122804800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:122797600-122809000	Strong transcription	Primary T cells from cord blood	blood
44	chr12:122797800-122806000	Weak transcription	Thymus	Thymus
45	chr12:122798000-122803800	Weak transcription	Psoas Muscle	Psoas
46	chr12:122798600-122804200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:122798600-122813200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:122798800-122803800	Strong transcription	A549	lung
49	chr12:122798800-122809200	Strong transcription	Fetal Intestine Large	intestine
50	chr12:122799000-122803600	Strong transcription	Right Ventricle	heart

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