Variant report

Variant	rs9805063
Chromosome Location	chr12:50141164-50141165
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:50141031-50141316	IMR90	lung:	n/a	n/a
2	POLR2A	chr12:50141116-50141354	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:50141069-50141177	K562	blood:	n/a	n/a
4	POLR2A	chr12:50140801-50141821	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:50141115-50141246	MCF-7	breast:	n/a	n/a
6	CEBPB	chr12:50141093-50141240	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:50141002-50141347	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:50140846-50143188	A549	lung:	n/a	n/a
9	POLR2A	chr12:50140974-50141741	GM12892	blood:	n/a	n/a
10	POLR2A	chr12:50141054-50141419	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:50140746-50141813	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:50141036-50141693	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:50140958-50141749	K562	blood:	n/a	n/a
14	WRNIP1	chr12:50141092-50141290	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:50141069-50142595	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:50141021-50141481	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50139617..50141183-chr12:50233786..50236642,2	K562	blood:
2	chr12:50137626..50141652-chr12:50149897..50153012,3	K562	blood:
3	chr12:50038466..50041675-chr12:50139974..50141821,3	K562	blood:
4	chr12:50030562..50034220-chr12:50141044..50143029,3	K562	blood:

No data

Variant related genes	Relation type
TMBIM6	TF binding region
ENSG00000139644	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000161791	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1012874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506287	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506288	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169145	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836837	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837639	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306430	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307828	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315524	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317778	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1317131	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123764	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993398	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336447	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641552	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637397	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56737983	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56743994	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56906356	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56945609	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57291131	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58756176	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59261129	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60094911	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60126713	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60415769	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60613973	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61281663	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086911	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087113	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087134	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087188	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74089557	0.86[ASN][1000 genomes]
rs74089564	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089566	1.00[ASN][1000 genomes]
rs74089570	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089573	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487779	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7487854	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964320	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967073	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7968302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970674	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973498	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50136600-50146400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:50136800-50144200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:50136800-50146600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:50137000-50142000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:50137000-50142200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:50137000-50143800	Weak transcription	Colonic Mucosa	Colon
7	chr12:50137000-50146200	Weak transcription	HSMMtube	muscle
8	chr12:50137000-50147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:50137200-50146200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:50137200-50152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:50137400-50141200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:50137400-50142000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:50137400-50143200	Strong transcription	Fetal Thymus	thymus
14	chr12:50137400-50146400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:50137400-50146400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:50137400-50146600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:50137400-50150800	Weak transcription	Fetal Brain Male	brain
18	chr12:50137600-50146200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:50137800-50142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:50137800-50142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:50137800-50142200	Weak transcription	HSMM	muscle
22	chr12:50137800-50143800	Weak transcription	Fetal Stomach	stomach
23	chr12:50137800-50144200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:50137800-50146200	Weak transcription	Fetal Kidney	kidney
25	chr12:50138000-50143800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:50138200-50146400	Weak transcription	Fetal Brain Female	brain
27	chr12:50138400-50141200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr12:50138400-50143000	Weak transcription	Stomach Mucosa	stomach
29	chr12:50138400-50144000	Weak transcription	Fetal Lung	lung
30	chr12:50138600-50141600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:50138600-50142000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:50138600-50142200	Weak transcription	Brain Anterior Caudate	brain
33	chr12:50138600-50142600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:50138600-50142800	Weak transcription	NH-A	brain
35	chr12:50138600-50143400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:50138600-50143800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:50138600-50143800	Weak transcription	Small Intestine	intestine
38	chr12:50138600-50144000	Weak transcription	Esophagus	oesophagus
39	chr12:50138600-50144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:50138600-50146400	Weak transcription	Brain Germinal Matrix	brain
41	chr12:50138800-50142000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:50138800-50142000	Weak transcription	Osteobl	bone
43	chr12:50138800-50143800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:50138800-50143800	Weak transcription	NHLF	lung
45	chr12:50138800-50144000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:50139000-50141200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr12:50139000-50141200	Weak transcription	Right Atrium	heart
48	chr12:50139000-50141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:50139000-50141400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:50139000-50141400	Weak transcription	Ovary	ovary

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