Variant report

Variant	rs12703112
Chromosome Location	chr7:150765236-150765237
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	MXI1	chr7:150764916-150765703	IMR90	lung:	n/a	n/a
2	SIN3AK20	chr7:150765204-150765468	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr7:150765229-150765513	IMR90	lung:	n/a	n/a
4	POLR2A	chr7:150765177-150765614	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr7:150765124-150765613	SK-N-SH	brain:	n/a	n/a
6	TEAD4	chr7:150765165-150765614	H1-hESC	embryonic stem cell:	n/a	chr7:150765423-150765432
7	MAX	chr7:150765022-150765422	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr7:150765132-150765332	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr7:150765204-150765511	H1-hESC	embryonic stem cell:	n/a	n/a
10	GATA3	chr7:150765105-150765643	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:150765141-150765570	K562	blood:	n/a	n/a
12	POLR2A	chr7:150765094-150766183	HepG2	liver:	n/a	n/a
13	SP1	chr7:150765150-150765566	H1-hESC	embryonic stem cell:	n/a	chr7:150765155-150765169
14	TEAD4	chr7:150765143-150765636	H1-hESC	embryonic stem cell:	n/a	chr7:150765423-150765432
15	MAX	chr7:150765176-150765318	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:150764465-150765538	K562	blood:	n/a	n/a
17	CEBPB	chr7:150765197-150765465	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SLC4A2	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10244332	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10273337	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1036061	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1050702	0.92[EUR][1000 genomes]
rs10952299	0.82[CEU][hapmap]
rs10952302	1.00[CHB][hapmap]
rs11766855	1.00[CHD][hapmap];0.88[GIH][hapmap]
rs11769150	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11770520	0.82[ASW][hapmap];0.82[CEU][hapmap]
rs13240966	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13246833	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3793337	0.95[EUR][1000 genomes]
rs4236428	1.00[CHB][hapmap]
rs4725389	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4725988	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6957724	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9278	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
10	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
14	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	64 gene(s)	inside rSNPs	diseases
15	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
21	nsv517508	chr7:150762871-150775306	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
22	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
23	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12703112	ABCF2	cis	cerebellum	SCAN
rs12703112	ATP6V0E2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150758400-150776000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150758600-150766600	Weak transcription	Brain Angular Gyrus	brain
3	chr7:150758800-150774600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:150758800-150774800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:150758800-150775800	Strong transcription	Thymus	Thymus
6	chr7:150759000-150774600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:150759000-150775400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150759200-150773600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:150759200-150775400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:150759200-150775400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:150759200-150776400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:150759400-150775600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:150759800-150769800	Strong transcription	Dnd41	blood
14	chr7:150760000-150775000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:150760200-150774200	Strong transcription	Spleen	Spleen
16	chr7:150760200-150775000	Weak transcription	Right Atrium	heart
17	chr7:150760400-150768800	Genic enhancers	Placenta	Placenta
18	chr7:150760400-150775400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:150760600-150774000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:150760600-150775200	Strong transcription	Lung	lung
21	chr7:150760600-150776800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:150760800-150765800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:150760800-150769400	Strong transcription	Brain Hippocampus Middle	brain
24	chr7:150760800-150773600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:150760800-150774000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr7:150760800-150775000	Strong transcription	NHLF	lung
27	chr7:150760800-150775200	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:150760800-150775400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:150760800-150776600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:150761000-150769800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:150761000-150774200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:150761000-150775200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:150761200-150769400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:150761200-150774200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr7:150761200-150774200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:150761200-150774400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:150761200-150774400	Strong transcription	K562	blood
38	chr7:150761200-150774600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:150761200-150774600	Strong transcription	Adipose Nuclei	Adipose
40	chr7:150761200-150774600	Strong transcription	Ovary	ovary
41	chr7:150761200-150775000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:150761200-150775200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:150761200-150775200	Strong transcription	Fetal Stomach	stomach
44	chr7:150761200-150775600	Strong transcription	Fetal Thymus	thymus
45	chr7:150761400-150765400	Strong transcription	Small Intestine	intestine
46	chr7:150761400-150765600	Strong transcription	Esophagus	oesophagus
47	chr7:150761400-150767800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:150761400-150769600	Strong transcription	Colon Smooth Muscle	Colon
49	chr7:150761400-150774000	Strong transcription	Gastric	stomach
50	chr7:150761600-150765400	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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