Variant report

Variant	rs2851435
Chromosome Location	chr12:123712416-123712417
allele	A/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	CEBPD	chr12:123712412-123712864	K562	blood:	n/a	n/a
2	GATA2	chr12:123712405-123712819	HUVEC	blood vessel:	n/a	chr12:123712607-123712621
3	GATA3	chr12:123712287-123712834	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123457561..123459704-chr12:123712281..123714160,2	K562	blood:
2	chr12:123710592..123714275-chr12:123716414..123719028,5	MCF-7	breast:
3	chr12:123710719..123712763-chr12:123752312..123754653,2	K562	blood:
4	chr12:123458255..123460917-chr12:123711834..123713415,2	MCF-7	breast:
5	chr12:123706053..123709770-chr12:123710218..123713943,5	K562	blood:

Variant related genes	Relation type
MPHOSPH9	TF binding region
ENSG00000150967	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1047158	0.89[EUR][1000 genomes]
rs1051431	0.91[EUR][1000 genomes]
rs10744147	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10744148	0.81[EUR][1000 genomes]
rs10744149	0.82[EUR][1000 genomes]
rs10772993	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10772995	0.92[EUR][1000 genomes]
rs10772996	0.82[EUR][1000 genomes]
rs10772998	0.90[EUR][1000 genomes]
rs10773001	0.81[EUR][1000 genomes]
rs10846478	0.92[EUR][1000 genomes]
rs10846486	0.95[EUR][1000 genomes]
rs10846487	0.87[EUR][1000 genomes]
rs11057192	0.96[EUR][1000 genomes]
rs11057204	0.89[EUR][1000 genomes]
rs11057206	0.89[EUR][1000 genomes]
rs11057210	0.87[EUR][1000 genomes]
rs1106240	0.91[EUR][1000 genomes]
rs1106241	0.89[EUR][1000 genomes]
rs1260294	0.81[EUR][1000 genomes]
rs1270594	0.82[AMR][1000 genomes]
rs12817892	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12818067	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12824957	0.80[EUR][1000 genomes]
rs12829456	0.92[EUR][1000 genomes]
rs1402274	0.94[EUR][1000 genomes]
rs1533703	0.81[EUR][1000 genomes]
rs1569068	0.88[EUR][1000 genomes]
rs1615694	0.91[EUR][1000 genomes]
rs1616131	0.88[EUR][1000 genomes]
rs1616181	0.88[EUR][1000 genomes]
rs1617156	0.81[EUR][1000 genomes]
rs1617434	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1618679	0.87[EUR][1000 genomes]
rs1621194	0.91[EUR][1000 genomes]
rs1626899	0.96[EUR][1000 genomes]
rs1627724	0.89[EUR][1000 genomes]
rs1630693	0.94[EUR][1000 genomes]
rs1630905	0.95[EUR][1000 genomes]
rs1716156	0.88[EUR][1000 genomes]
rs1716157	0.92[EUR][1000 genomes]
rs1716158	0.85[EUR][1000 genomes]
rs1716159	0.92[EUR][1000 genomes]
rs1716160	0.96[EUR][1000 genomes]
rs1716164	0.90[EUR][1000 genomes]
rs1716165	0.91[EUR][1000 genomes]
rs1716167	0.91[EUR][1000 genomes]
rs1716168	0.90[EUR][1000 genomes]
rs1716169	0.81[EUR][1000 genomes]
rs1716170	0.91[EUR][1000 genomes]
rs1716171	0.91[EUR][1000 genomes]
rs1716172	0.93[EUR][1000 genomes]
rs1716173	0.88[EUR][1000 genomes]
rs1716175	0.92[EUR][1000 genomes]
rs1716176	0.93[EUR][1000 genomes]
rs1716177	0.93[EUR][1000 genomes]
rs1716182	0.91[EUR][1000 genomes]
rs1716185	0.87[EUR][1000 genomes]
rs1727290	0.93[EUR][1000 genomes]
rs1727294	0.88[EUR][1000 genomes]
rs1727296	0.91[EUR][1000 genomes]
rs1727300	0.90[EUR][1000 genomes]
rs1727306	0.92[EUR][1000 genomes]
rs1727309	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1727310	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1727313	0.90[EUR][1000 genomes]
rs1727314	0.88[EUR][1000 genomes]
rs1727315	0.89[EUR][1000 genomes]
rs1727316	0.88[EUR][1000 genomes]
rs1727317	0.89[EUR][1000 genomes]
rs1727318	0.84[EUR][1000 genomes]
rs1727319	0.81[EUR][1000 genomes]
rs1727320	0.96[EUR][1000 genomes]
rs1727322	0.93[EUR][1000 genomes]
rs1727323	0.96[EUR][1000 genomes]
rs1727324	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1727325	0.96[EUR][1000 genomes]
rs1727334	0.91[EUR][1000 genomes]
rs1790086	0.92[EUR][1000 genomes]
rs1790087	0.92[EUR][1000 genomes]
rs1790089	0.94[EUR][1000 genomes]
rs1790090	0.89[EUR][1000 genomes]
rs1790095	0.94[EUR][1000 genomes]
rs1790098	0.93[EUR][1000 genomes]
rs1790100	0.94[EUR][1000 genomes]
rs1790101	0.94[EUR][1000 genomes]
rs1790102	0.94[EUR][1000 genomes]
rs1790108	0.89[EUR][1000 genomes]
rs1790109	0.89[EUR][1000 genomes]
rs1790116	0.88[EUR][1000 genomes]
rs1790120	0.81[EUR][1000 genomes]
rs1790123	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1790124	0.89[EUR][1000 genomes]
rs1790125	0.84[EUR][1000 genomes]
rs1790130	0.94[EUR][1000 genomes]
rs1790131	0.95[EUR][1000 genomes]
rs1879380	0.84[EUR][1000 genomes]
rs1969354	0.81[EUR][1000 genomes]
rs2049114	0.92[EUR][1000 genomes]
rs2510885	0.85[EUR][1000 genomes]
rs2682425	0.83[EUR][1000 genomes]
rs2682429	0.89[EUR][1000 genomes]
rs2682430	0.94[EUR][1000 genomes]
rs2682431	0.96[EUR][1000 genomes]
rs2682433	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2682434	0.96[EUR][1000 genomes]
rs2695476	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2695478	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2695479	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2695480	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2695481	0.89[EUR][1000 genomes]
rs2695482	0.89[EUR][1000 genomes]
rs2851436	0.90[EUR][1000 genomes]
rs2851438	0.89[EUR][1000 genomes]
rs2851441	0.83[EUR][1000 genomes]
rs2851443	0.81[EUR][1000 genomes]
rs2851450	0.96[EUR][1000 genomes]
rs2851451	0.95[EUR][1000 genomes]
rs2947099	0.91[EUR][1000 genomes]
rs2950537	0.89[EUR][1000 genomes]
rs3018098	0.93[EUR][1000 genomes]
rs34341465	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4268544	0.80[EUR][1000 genomes]
rs4372492	0.96[EUR][1000 genomes]
rs4759371	0.81[EUR][1000 genomes]
rs4759409	0.88[EUR][1000 genomes]
rs58809476	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6633	0.82[EUR][1000 genomes]
rs7313483	0.87[EUR][1000 genomes]
rs7953929	0.85[AMR][1000 genomes]
rs884548	0.89[EUR][1000 genomes]
rs941305	0.91[EUR][1000 genomes]
rs941306	0.91[EUR][1000 genomes]
rs949142	0.89[EUR][1000 genomes]
rs9795522	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
2	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2851435	ARL6IP4	Cis_1M	lymphoblastoid	RTeQTL
rs2851435	CDK2AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs2851435	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL
rs2851435	RP11-282O18.3	cis	Esophagus Mucosa	GTEx
rs2851435	SBNO1	Cis_1M	lymphoblastoid	RTeQTL
rs2851435	SETD8	Cis_1M	lymphoblastoid	RTeQTL
rs2851435	MPHOSPH9	Cis_1M	lymphoblastoid	RTeQTL
rs2851435	LOC283378	Cis_1M	lymphoblastoid	RTeQTL
rs2851435	CDK2AP1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
2	chr12:123637000-123713000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:123637200-123716400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:123650600-123716400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:123654200-123715400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:123674600-123713400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:123680600-123716600	Weak transcription	Colonic Mucosa	Colon
8	chr12:123687800-123716600	Weak transcription	Gastric	stomach
9	chr12:123687800-123716600	Weak transcription	Pancreas	Pancrea
10	chr12:123687800-123717000	Weak transcription	Aorta	Aorta
11	chr12:123688000-123715200	Weak transcription	Fetal Heart	heart
12	chr12:123690800-123716000	Weak transcription	Psoas Muscle	Psoas
13	chr12:123694600-123716800	Weak transcription	Ovary	ovary
14	chr12:123696200-123715000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:123698400-123716600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:123698800-123713400	Weak transcription	Fetal Brain Male	brain
17	chr12:123699200-123716400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:123699200-123716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:123699400-123716400	Weak transcription	HSMM	muscle
20	chr12:123699600-123716400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:123699600-123716600	Weak transcription	Spleen	Spleen
22	chr12:123699600-123716600	Weak transcription	HSMMtube	muscle
23	chr12:123701200-123715200	Weak transcription	NHDF-Ad	bronchial
24	chr12:123702600-123715000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:123703000-123713200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:123703400-123715200	Weak transcription	Brain Angular Gyrus	brain
27	chr12:123704600-123715600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:123705000-123716600	Weak transcription	Lung	lung
29	chr12:123705200-123716200	Weak transcription	NHEK	skin
30	chr12:123706400-123716400	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:123706600-123712800	Weak transcription	HUVEC	blood vessel
32	chr12:123706600-123716400	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:123706600-123716400	Weak transcription	HMEC	breast
34	chr12:123706800-123716000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:123706800-123717000	Weak transcription	Small Intestine	intestine
36	chr12:123707000-123716000	Weak transcription	Left Ventricle	heart
37	chr12:123707200-123713200	Genic enhancers	Fetal Thymus	thymus
38	chr12:123707200-123715200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:123707200-123716400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:123707400-123716200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:123707400-123716400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:123708000-123713400	Weak transcription	Fetal Brain Female	brain
43	chr12:123708000-123716400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:123708200-123713000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:123708200-123713200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:123708200-123713200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:123708200-123713600	Weak transcription	Adipose Nuclei	Adipose
48	chr12:123708200-123716000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:123708200-123716000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:123708200-123716000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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