Variant report

Variant	rs793190
Chromosome Location	chr12:31523478-31523479
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	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	ELF1	chr12:31523419-31523723	K562	blood:	n/a	chr12:31523645-31523656
5	CHD1	chr12:31521706-31524671	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:31523156-31524264	HepG2	liver:	n/a	n/a
7	BHLHE40	chr12:31523424-31524225	K562	blood:	n/a	n/a
8	POLR2A	chr12:31522641-31524622	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr12:31523446-31523943	K562	blood:	n/a	n/a
10	CEBPB	chr12:31523475-31524255	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr12:31522733-31524476	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr12:31523037-31524401	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr12:31523465-31523648	K562	blood:	n/a	n/a
14	KAP1	chr12:31522644-31524373	HEK293	kidney:	n/a	n/a
15	POLR2A	chr12:31521505-31524812	H1-hESC	embryonic stem cell:	n/a	n/a
16	SPI1	chr12:31523448-31523793	K562	blood:	n/a	chr12:31523644-31523657 chr12:31523646-31523653
17	POLR2A	chr12:31523130-31524383	H1-hESC	embryonic stem cell:	n/a	n/a
18	KAP1	chr12:31521482-31524528	U2OS	brain:	n/a	n/a
19	TCF7L2	chr12:31523104-31524278	HEK293	kidney:	n/a	n/a
20	ATF2	chr12:31522886-31524307	H1-hESC	embryonic stem cell:	n/a	n/a
21	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: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12814677	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568901	0.82[ASN][1000 genomes]
rs2947173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs708205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs812744	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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:88 , 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	chr12:31521600-31524200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:31521600-31524400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:31521600-31524400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:31521600-31524400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:31521600-31524400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:31521600-31524400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:31521600-31524400	Flanking Active TSS	HepG2	liver
10	chr12:31521600-31524600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr12:31521600-31524800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:31522200-31524200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:31522200-31524600	Enhancers	A549	lung
14	chr12:31522400-31523600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:31522400-31523800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:31522400-31524400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:31522400-31524600	Flanking Active TSS	Fetal Intestine Small	intestine
18	chr12:31522600-31523600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:31522600-31523600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr12:31522600-31523600	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr12:31522600-31523800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:31522600-31523800	Flanking Active TSS	NHEK	skin
23	chr12:31522600-31524000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:31522600-31524200	Flanking Active TSS	Fetal Kidney	kidney
25	chr12:31522600-31524400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr12:31522600-31524400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:31522600-31524400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:31522600-31524800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:31522800-31523600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:31522800-31523600	Active TSS	Aorta	Aorta
31	chr12:31522800-31523600	Active TSS	Left Ventricle	heart
32	chr12:31522800-31523600	Active TSS	Pancreas	Pancrea
33	chr12:31522800-31523600	Active TSS	Psoas Muscle	Psoas
34	chr12:31522800-31523800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:31522800-31523800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:31522800-31523800	Active TSS	Right Atrium	heart
37	chr12:31522800-31523800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:31522800-31524200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr12:31522800-31524200	Active TSS	Rectal Smooth Muscle	rectum
40	chr12:31522800-31524400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr12:31522800-31524400	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr12:31523000-31523600	Enhancers	Brain Anterior Caudate	brain
43	chr12:31523000-31523800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:31523000-31523800	Active TSS	Brain Cingulate Gyrus	brain
45	chr12:31523000-31523800	Active TSS	Colon Smooth Muscle	Colon
46	chr12:31523000-31524000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr12:31523000-31524000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:31523000-31524400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:31523000-31524400	Enhancers	Brain Germinal Matrix	brain
50	chr12:31523000-31524600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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