Variant report

Variant	rs61942051
Chromosome Location	chr12:49073721-49073722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49073716-49074216	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:49073060-49073875	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:49073617-49074832	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:49073467-49073989	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:49073711-49074097	K562	blood:	n/a	n/a
6	POLR2A	chr12:49073332-49074055	K562	blood:	n/a	n/a
7	POLR2A	chr12:49073126-49074285	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:49073695-49074390	PFSK-1	brain:	n/a	n/a
9	MAFK	chr12:49073649-49073771	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:49073712-49074296	K562	blood:	n/a	n/a
11	POLR2A	chr12:49073573-49073945	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr12:49073692-49074164	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:49073658..49078597-chr12:49201352..49212442,12	MCF-7	breast:
2	chr12:49072667..49077768-chr12:49107571..49112359,8	MCF-7	breast:
3	chr12:49072707..49077771-chr12:49103757..49111723,15	MCF-7	breast:
4	chr12:49059501..49061624-chr12:49071853..49074328,2	K562	blood:
5	chr12:49052583..49059422-chr12:49071692..49076510,9	K562	blood:
6	chr12:49052650..49057544-chr12:49071692..49076123,6	K562	blood:
7	chr12:49072639..49079132-chr12:49108469..49112073,12	K562	blood:
8	chr12:49073439..49079132-chr12:49108039..49112179,15	K562	blood:
9	chr12:49049997..49051694-chr12:49071950..49074374,2	K562	blood:

No data

Variant related genes	Relation type
KANSL2	TF binding region
ENSG00000139620	Chromatin interaction
ENSG00000206612	Chromatin interaction
ENSG00000207313	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000207467	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10875851	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11168620	1.00[ASN][1000 genomes]
rs11168659	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168660	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168661	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168664	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168667	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168690	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168691	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168692	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168693	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168694	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168695	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168699	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168700	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168701	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168708	1.00[ASN][1000 genomes]
rs11168715	1.00[ASN][1000 genomes]
rs11168717	1.00[ASN][1000 genomes]
rs11168718	1.00[ASN][1000 genomes]
rs11168719	1.00[ASN][1000 genomes]
rs11168722	1.00[ASN][1000 genomes]
rs11168727	1.00[ASN][1000 genomes]
rs11168781	1.00[ASN][1000 genomes]
rs11832160	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369279	1.00[ASN][1000 genomes]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895994	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409084	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132370	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405363	1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942011	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61942012	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942013	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942014	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942015	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942016	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942018	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942047	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942048	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942049	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942052	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61942053	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61942058	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942059	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	1.00[ASN][1000 genomes]
rs6580694	1.00[ASN][1000 genomes]
rs7138342	1.00[ASN][1000 genomes]
rs7294389	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295027	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295138	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296987	1.00[ASN][1000 genomes]
rs7303113	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964801	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966343	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967175	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967542	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973954	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975102	1.00[ASN][1000 genomes]
rs7977935	1.00[ASN][1000 genomes]
rs7979508	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953673	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv519053	chr12:49065727-49079470	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49041800-49073800	Strong transcription	Fetal Intestine Large	intestine
2	chr12:49058400-49074000	Strong transcription	Fetal Muscle Trunk	muscle
3	chr12:49065800-49074600	Weak transcription	Aorta	Aorta
4	chr12:49066400-49075000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:49069400-49074200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:49069800-49073800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:49070400-49075000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:49070600-49074600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr12:49070800-49074400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:49070800-49075000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:49071000-49073800	Genic enhancers	Adipose Nuclei	Adipose
12	chr12:49071000-49074000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:49071000-49074000	Genic enhancers	Primary B cells from cord blood	blood
14	chr12:49071000-49074200	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:49071000-49074600	Genic enhancers	Colon Smooth Muscle	Colon
16	chr12:49071200-49074000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:49071200-49074000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:49071200-49074400	Transcr. at gene 5' and 3'	Hela-S3	cervix
19	chr12:49071200-49074800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:49071600-49073800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:49071600-49074200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
22	chr12:49071600-49074200	Genic enhancers	Duodenum Mucosa	Duodenum
23	chr12:49071600-49074400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:49071600-49074400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:49071600-49074800	Genic enhancers	Osteobl	bone
26	chr12:49071800-49073800	Transcr. at gene 5' and 3'	HMEC	breast
27	chr12:49071800-49074000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:49071800-49074200	Genic enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:49071800-49074400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:49071800-49074400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:49071800-49074400	Genic enhancers	Fetal Lung	lung
32	chr12:49071800-49074600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
33	chr12:49071800-49074800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:49072000-49074000	Genic enhancers	Liver	Liver
35	chr12:49072000-49074200	Genic enhancers	Brain Hippocampus Middle	brain
36	chr12:49072000-49074400	Transcr. at gene 5' and 3'	A549	lung
37	chr12:49072000-49074600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
38	chr12:49072000-49075000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:49072200-49074000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:49072200-49074000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr12:49072200-49074800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:49072400-49073800	Genic enhancers	Brain Inferior Temporal Lobe	brain
43	chr12:49072400-49074400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
44	chr12:49072400-49074400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:49072400-49074400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
46	chr12:49072400-49074400	Genic enhancers	Placenta	Placenta
47	chr12:49072400-49074400	Transcr. at gene 5' and 3'	NHEK	skin
48	chr12:49072400-49074600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
49	chr12:49072400-49074600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:49072400-49074600	Transcr. at gene 5' and 3'	HUVEC	blood vessel

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