Variant report

Variant	rs793189
Chromosome Location	chr12:31523391-31523392
allele	C/T
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	ZNF263	chr12:31522544-31524392	HEK293-T-REx	kidney:	n/a	chr12:31523877-31523886
2	MAFK	chr12:31523275-31523826	K562	blood:	n/a	n/a
3	POLR2A	chr12:31522754-31523600	PFSK-1	brain:	n/a	n/a
4	CHD1	chr12:31521706-31524671	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:31523156-31524264	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:31522641-31524622	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr12:31522733-31524476	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr12:31523037-31524401	H1-hESC	embryonic stem cell:	n/a	n/a
9	KAP1	chr12:31522644-31524373	HEK293	kidney:	n/a	n/a
10	POLR2A	chr12:31521505-31524812	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:31523130-31524383	H1-hESC	embryonic stem cell:	n/a	n/a
12	KAP1	chr12:31521482-31524528	U2OS	brain:	n/a	n/a
13	TCF7L2	chr12:31523104-31524278	HEK293	kidney:	n/a	n/a
14	TAF1	chr12:31522798-31523392	PFSK-1	brain:	n/a	n/a
15	ATF2	chr12:31522886-31524307	H1-hESC	embryonic stem cell:	n/a	n/a
16	SPI1	chr12:31523365-31523844	HL-60	blood:	n/a	chr12:31523644-31523657 chr12:31523646-31523653

Variant related genes	Relation type
ENSG00000256232	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10843946	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051420	0.83[ASN][1000 genomes]
rs11051457	0.83[ASN][1000 genomes]
rs11051459	0.83[ASN][1000 genomes]
rs1150944	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1150946	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1150947	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1150951	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1150952	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1150956	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1150957	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12299050	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12302576	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12305954	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259215	0.83[ASN][1000 genomes]
rs1259237	0.83[ASN][1000 genomes]
rs1259240	0.83[ASN][1000 genomes]
rs1259391	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259392	0.81[EUR][1000 genomes]
rs1259394	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259402	0.83[ASN][1000 genomes]
rs1259403	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259406	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259407	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259408	0.81[EUR][1000 genomes]
rs1259410	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259411	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259412	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259429	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259436	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1259440	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1262389	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1262391	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1262392	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1267631	0.83[ASN][1000 genomes]
rs1267688	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1267689	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1270211	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1271657	0.83[ASN][1000 genomes]
rs1271662	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1654008	0.81[EUR][1000 genomes]
rs1677155	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1677156	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1677182	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1716193	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1798769	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1798781	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1798782	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1864912	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2568880	0.83[ASN][1000 genomes]
rs2568886	0.83[ASN][1000 genomes]
rs2568896	0.83[ASN][1000 genomes]
rs2617179	0.83[ASN][1000 genomes]
rs2617189	0.83[ASN][1000 genomes]
rs2617192	0.83[ASN][1000 genomes]
rs2617194	0.83[ASN][1000 genomes]
rs2617210	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2679488	0.83[ASN][1000 genomes]
rs2679501	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2679502	0.83[ASN][1000 genomes]
rs2679503	0.83[ASN][1000 genomes]
rs2682461	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2682681	0.83[ASN][1000 genomes]
rs2682682	0.83[ASN][1000 genomes]
rs2682683	0.83[ASN][1000 genomes]
rs2682684	0.83[ASN][1000 genomes]
rs2682690	0.83[ASN][1000 genomes]
rs2682702	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2947175	0.83[ASN][1000 genomes]
rs4931491	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61663978	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67985192	0.83[ASN][1000 genomes]
rs708198	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708199	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708201	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708202	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708207	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708211	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708218	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708220	0.83[ASN][1000 genomes]
rs7300482	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302238	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302818	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs792874	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs793147	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs793152	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs793159	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs793164	0.94[EUR][1000 genomes]
rs793172	0.83[ASN][1000 genomes]
rs793178	0.83[ASN][1000 genomes]
rs793181	0.83[ASN][1000 genomes]
rs793183	0.83[ASN][1000 genomes]
rs793187	0.83[ASN][1000 genomes]
rs793188	0.83[ASN][1000 genomes]
rs796963	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs811088	0.83[ASN][1000 genomes]
rs971294	0.83[ASN][1000 genomes]
rs973510	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31516000-31523600	Weak transcription	Spleen	Spleen
2	chr12:31521200-31524600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:31521400-31523400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:31521600-31523400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:31521600-31524200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:31521600-31524400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:31521600-31524400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:31521600-31524400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:31521600-31524400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:31521600-31524400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:31521600-31524400	Flanking Active TSS	HepG2	liver
12	chr12:31521600-31524600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr12:31521600-31524800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:31522200-31524200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:31522200-31524600	Enhancers	A549	lung
16	chr12:31522400-31523400	Weak transcription	Fetal Thymus	thymus
17	chr12:31522400-31523600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:31522400-31523800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:31522400-31524400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:31522400-31524600	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr12:31522600-31523400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:31522600-31523400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:31522600-31523400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:31522600-31523600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:31522600-31523600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:31522600-31523600	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr12:31522600-31523800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:31522600-31523800	Flanking Active TSS	NHEK	skin
29	chr12:31522600-31524000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:31522600-31524200	Flanking Active TSS	Fetal Kidney	kidney
31	chr12:31522600-31524400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:31522600-31524400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:31522600-31524400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:31522600-31524800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:31522800-31523400	Active TSS	Brain Hippocampus Middle	brain
36	chr12:31522800-31523400	Active TSS	Ovary	ovary
37	chr12:31522800-31523400	Active TSS	Stomach Mucosa	stomach
38	chr12:31522800-31523400	Flanking Active TSS	HUVEC	blood vessel
39	chr12:31522800-31523600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:31522800-31523600	Active TSS	Aorta	Aorta
41	chr12:31522800-31523600	Active TSS	Left Ventricle	heart
42	chr12:31522800-31523600	Active TSS	Pancreas	Pancrea
43	chr12:31522800-31523600	Active TSS	Psoas Muscle	Psoas
44	chr12:31522800-31523800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:31522800-31523800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:31522800-31523800	Active TSS	Right Atrium	heart
47	chr12:31522800-31523800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:31522800-31524200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr12:31522800-31524200	Active TSS	Rectal Smooth Muscle	rectum
50	chr12:31522800-31524400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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