Variant report

Variant	rs7953412
Chromosome Location	chr12:50140266-50140267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:50140227-50140497	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50137650..50140394-chr12:50217891..50219857,2	MCF-7	breast:
2	chr12:50139617..50141183-chr12:50233786..50236642,2	K562	blood:
3	chr12:50137626..50141652-chr12:50149897..50153012,3	K562	blood:
4	chr12:50038061..50039763-chr12:50138977..50140506,2	K562	blood:
5	chr12:50038466..50041675-chr12:50139974..50141821,3	K562	blood:

No data

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

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

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]
rs1049986	0.87[CEU][hapmap]
rs10506287	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506288	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169097	0.87[CEU][hapmap]
rs11169106	0.87[CEU][hapmap]
rs11169125	0.87[CEU][hapmap]
rs11169126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169127	0.87[CEU][hapmap]
rs11169143	1.00[CEU][hapmap];1.00[JPT][hapmap];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[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834380	0.87[CEU][hapmap]
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]
rs12299505	0.87[CEU][hapmap]
rs12306422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306430	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306481	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307828	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310510	0.87[CEU][hapmap]
rs12313353	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12313354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314795	1.00[CEU][hapmap]
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	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470906	0.87[CEU][hapmap]
rs1574326	0.87[CEU][hapmap]
rs17123764	1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123927	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123970	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993398	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336058	0.87[CEU][hapmap]
rs2336447	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563	0.87[CEU][hapmap]
rs4584654	0.87[CEU][hapmap]
rs4641552	1.00[CEU][hapmap];1.00[JPT][hapmap];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]
rs7137976	0.87[CEU][hapmap]
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]
rs7688	0.87[CEU][hapmap]
rs7952734	0.87[CEU][hapmap]
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[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970674	0.87[CEU][hapmap];1.00[JPT][hapmap];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]
rs7979262	0.85[CEU][hapmap]
rs9805063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	chr12:50136400-50140800	Weak transcription	Gastric	stomach
2	chr12:50136600-50146400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:50136800-50144200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:50136800-50146600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:50137000-50142000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:50137000-50142200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:50137000-50143800	Weak transcription	Colonic Mucosa	Colon
8	chr12:50137000-50146200	Weak transcription	HSMMtube	muscle
9	chr12:50137000-50147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:50137200-50146200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:50137200-50152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:50137400-50140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:50137400-50140800	Enhancers	Adipose Nuclei	Adipose
14	chr12:50137400-50141200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:50137400-50142000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:50137400-50143200	Strong transcription	Fetal Thymus	thymus
17	chr12:50137400-50146400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:50137400-50146400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:50137400-50146600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:50137400-50150800	Weak transcription	Fetal Brain Male	brain
21	chr12:50137600-50146200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:50137800-50142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:50137800-50142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:50137800-50142200	Weak transcription	HSMM	muscle
25	chr12:50137800-50143800	Weak transcription	Fetal Stomach	stomach
26	chr12:50137800-50144200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:50137800-50146200	Weak transcription	Fetal Kidney	kidney
28	chr12:50138000-50141000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:50138000-50141000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:50138000-50143800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:50138200-50146400	Weak transcription	Fetal Brain Female	brain
32	chr12:50138400-50141200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:50138400-50143000	Weak transcription	Stomach Mucosa	stomach
34	chr12:50138400-50144000	Weak transcription	Fetal Lung	lung
35	chr12:50138600-50141600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:50138600-50142000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:50138600-50142200	Weak transcription	Brain Anterior Caudate	brain
38	chr12:50138600-50142600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:50138600-50142800	Weak transcription	NH-A	brain
40	chr12:50138600-50143400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:50138600-50143800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:50138600-50143800	Weak transcription	Small Intestine	intestine
43	chr12:50138600-50144000	Weak transcription	Esophagus	oesophagus
44	chr12:50138600-50144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:50138600-50146400	Weak transcription	Brain Germinal Matrix	brain
46	chr12:50138800-50140400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:50138800-50140400	Weak transcription	Fetal Intestine Small	intestine
48	chr12:50138800-50140600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:50138800-50140800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:50138800-50140800	Weak transcription	Fetal Intestine Large	intestine

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