Variant report

Variant	rs12644212
Chromosome Location	chr4:54323314-54323315
allele	C/G
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	POLR2A	chr4:54321495-54323419	K562	blood:	n/a	n/a

Variant related genes	Relation type
FIP1L1	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10006090	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10008334	0.88[YRI][hapmap]
rs10011631	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10012682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10012857	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10014172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10019914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10021659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10022429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10022604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10023613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10024153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10024702	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10025091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10027090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10028131	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034035	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10517295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12642401	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12645252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12645287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12645694	1.00[CEU][hapmap];0.85[GIH][hapmap];0.96[YRI][hapmap]
rs12649258	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12649335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12651687	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13435297	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13435378	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1383982	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1473911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1481822	0.84[ASW][hapmap];0.92[CHD][hapmap];0.84[YRI][hapmap]
rs15834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17082557	0.84[ASW][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.85[MEX][hapmap];0.84[YRI][hapmap]
rs17082681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17082726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17082741	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17082744	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17082811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17082837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17082847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17326196	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2048709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2054589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2054590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2054591	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2137894	0.85[ASN][1000 genomes]
rs2137895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175906	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28396593	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28403386	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28414224	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28416355	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28417191	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28418269	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28454103	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28459811	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28460231	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28506190	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28538880	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28555544	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28575132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28588270	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633646	0.88[ASN][1000 genomes]
rs28647402	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28654213	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28658460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28729231	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28778298	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28778963	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28835433	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28848852	0.95[ASN][1000 genomes]
rs34060994	0.89[ASN][1000 genomes]
rs3762877	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3762878	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3762879	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4864773	1.00[CEU][hapmap];0.82[GIH][hapmap]
rs55862905	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56331163	0.80[ASN][1000 genomes]
rs56345181	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56997859	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57090564	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57165925	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57587034	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57616867	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57717970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58566208	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59213600	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59311047	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60072918	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62323221	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62323222	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62323223	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62325171	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62325218	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62325968	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62325970	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6811200	0.84[ASW][hapmap];0.92[CHD][hapmap];0.84[YRI][hapmap]
rs6816889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6834099	0.92[YRI][hapmap]
rs6835629	0.85[YRI][hapmap]
rs6852755	0.84[YRI][hapmap]
rs73154934	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73154945	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73156086	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9312640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9968395	0.89[ASN][1000 genomes]
rs9995110	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9996299	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9997905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12644212	SPINK2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54253400-54327200	Weak transcription	Colonic Mucosa	Colon
2	chr4:54268000-54327600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:54270000-54330800	Weak transcription	Brain Substantia Nigra	brain
4	chr4:54276800-54324800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:54291800-54329400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:54292200-54331200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:54294000-54325600	Weak transcription	Fetal Heart	heart
8	chr4:54295200-54331600	Weak transcription	Hela-S3	cervix
9	chr4:54295600-54339400	Weak transcription	Fetal Brain Male	brain
10	chr4:54297600-54326200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:54297600-54329600	Strong transcription	Dnd41	blood
12	chr4:54298600-54329600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:54305000-54324600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:54312600-54324800	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:54316400-54329200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:54316800-54332600	Weak transcription	Esophagus	oesophagus
17	chr4:54317200-54331400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:54317400-54332600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:54317800-54329600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:54318000-54324200	Strong transcription	K562	blood
21	chr4:54318000-54324400	Strong transcription	Primary T cells from cord blood	blood
22	chr4:54318000-54329200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr4:54318000-54329600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:54318200-54323600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:54318200-54323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:54318200-54329200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr4:54318200-54329200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:54318200-54329800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:54318200-54330200	Strong transcription	Placenta	Placenta
30	chr4:54318400-54324000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:54318400-54324800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:54318400-54326600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:54318400-54327600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:54318400-54328600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:54318400-54329000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:54318400-54329800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:54318400-54329800	Strong transcription	Primary B cells from cord blood	blood
38	chr4:54318600-54329400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr4:54318600-54329600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr4:54318600-54330000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:54318600-54330000	Strong transcription	Fetal Thymus	thymus
42	chr4:54318600-54330400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr4:54318800-54323400	Strong transcription	HSMM	muscle
44	chr4:54318800-54323800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:54318800-54324000	Strong transcription	HMEC	breast
46	chr4:54318800-54325400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:54318800-54325400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:54318800-54328000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr4:54318800-54329600	Strong transcription	Adipose Nuclei	Adipose
50	chr4:54318800-54329800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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