Variant report

Variant	rs2235222
Chromosome Location	chr12:120892193-120892194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:120891887-120892249	HepG2	liver:	n/a	chr12:120892071-120892086
2	POLR2A	chr12:120891851-120892338	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:120891662-120892580	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr12:120891751-120892542	K562	blood:	n/a	n/a
5	POLR2A	chr12:120891759-120892512	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr12:120891858-120892229	Hela-S3	cervix:	n/a	n/a
7	MAFK	chr12:120891878-120892256	K562	blood:	n/a	chr12:120892071-120892086
8	CTCF	chr12:120891650-120892226	HCT-116	colon:	n/a	n/a
9	CTCF	chr12:120891584-120892464	A549	lung:	n/a	n/a
10	MAFK	chr12:120891825-120892251	Hela-S3	cervix:	n/a	chr12:120892071-120892086
11	POLR2A	chr12:120891657-120892307	K562	blood:	n/a	n/a
12	CTCF	chr12:120892160-120892310	GM12864	blood:	n/a	n/a
13	POLR2A	chr12:120891917-120892404	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr12:120891587-120892295	SK-N-SH	brain:	n/a	n/a
15	RAD21	chr12:120891682-120892257	HCT-116	colon:	n/a	n/a
16	POLR2A	chr12:120891568-120892282	U87	brain:	n/a	n/a
17	MAFF	chr12:120891855-120892254	HepG2	liver:	n/a	chr12:120892070-120892088
18	CTCF	chr12:120891638-120892245	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr12:120891794-120892492	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:120891775-120892395	GM12878	blood:	n/a	n/a
21	MAFK	chr12:120891856-120892255	IMR90	lung:	n/a	chr12:120892071-120892086
22	POLR2A	chr12:120892188-120892202	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFK	chr12:120891843-120892259	HepG2	liver:	n/a	chr12:120892071-120892086
24	MAFK	chr12:120891766-120892257	H1-hESC	embryonic stem cell:	n/a	chr12:120892071-120892086
25	MAFF	chr12:120891879-120892249	K562	blood:	n/a	chr12:120892070-120892088
26	POLR2A	chr12:120891749-120892204	HCT-116	colon:	n/a	n/a
27	CTCF	chr12:120892140-120892290	HMF	breast:	n/a	n/a
28	POLR2A	chr12:120891690-120892463	MCF-7	breast:	n/a	n/a
29	POLR2A	chr12:120892156-120892491	GM12892	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120806478..120809212-chr12:120890745..120893495,2	MCF-7	breast:
2	chr12:120889513..120892526-chr12:120894358..120898102,4	MCF-7	breast:
3	chr12:120890623..120893474-chr12:120971364..120973181,2	K562	blood:
4	chr12:120883001..120885733-chr12:120888427..120893155,6	K562	blood:
5	chr12:120784433..120787362-chr12:120891914..120893925,2	MCF-7	breast:
6	chr12:120877284..120879575-chr12:120889829..120893367,4	K562	blood:
7	chr12:120881786..120887915-chr12:120889674..120896423,17	MCF-7	breast:
8	chr12:120890596..120893459-chr12:120932974..120935668,2	MCF-7	breast:
9	chr12:120888535..120893350-chr12:120899980..120905393,5	MCF-7	breast:

No data

Variant related genes	Relation type
RPL31P52	TF binding region
ENSG00000135097	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000022840	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10849755	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1167695	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1167700	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1167703	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1167725	0.84[CHB][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1167726	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1167727	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12307148	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12310837	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1614223	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1622884	0.83[EUR][1000 genomes]
rs1671767	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1671770	0.83[AMR][1000 genomes]
rs17431717	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1794748	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1794749	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4347449	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs550876	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs563920	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs567156	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57717256	0.85[ASN][1000 genomes]
rs580016	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs588132	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs591992	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs614226	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs616157	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61945858	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61945873	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs640350	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7137953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7174	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73405622	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs787824	0.84[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs787827	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787832	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7956998	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7963543	0.84[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7972244	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2235222	POP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120884800-120893000	Weak transcription	Aorta	Aorta
2	chr12:120884800-120893200	Weak transcription	Small Intestine	intestine
3	chr12:120885000-120893800	Weak transcription	Ovary	ovary
4	chr12:120885400-120892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:120885400-120892200	Weak transcription	Left Ventricle	heart
6	chr12:120885400-120892600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:120885400-120893200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:120885400-120893200	Weak transcription	Colonic Mucosa	Colon
9	chr12:120885400-120893800	Weak transcription	Esophagus	oesophagus
10	chr12:120885400-120893800	Weak transcription	Lung	lung
11	chr12:120885400-120894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120885400-120895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:120885400-120904400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:120885600-120892600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:120885600-120893800	Weak transcription	HSMMtube	muscle
18	chr12:120885600-120894000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:120885600-120894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:120885600-120896400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:120885600-120904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:120885600-120904000	Strong transcription	Fetal Stomach	stomach
23	chr12:120885800-120893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:120885800-120893800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:120885800-120894000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:120885800-120894000	Weak transcription	Psoas Muscle	Psoas
27	chr12:120885800-120894000	Weak transcription	HUVEC	blood vessel
28	chr12:120885800-120894200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:120885800-120894200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:120885800-120897800	Weak transcription	Fetal Heart	heart
31	chr12:120885800-120904200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:120885800-120904400	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:120885800-120904400	Weak transcription	Right Atrium	heart
34	chr12:120885800-120904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:120885800-120904600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:120886000-120892400	Weak transcription	Right Ventricle	heart
37	chr12:120886000-120892600	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:120886000-120894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:120886000-120897000	Weak transcription	Fetal Brain Male	brain
40	chr12:120886000-120904200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:120886200-120904800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:120886400-120894000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:120886400-120897800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:120886600-120904200	Strong transcription	Fetal Thymus	thymus
45	chr12:120887000-120903400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:120887000-120904000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:120887000-120905000	Strong transcription	Thymus	Thymus
50	chr12:120887000-120905600	Strong transcription	H1 Cell Line	embryonic stem cell

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