Variant report

Variant	rs73397654
Chromosome Location	chr12:105627805-105627806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
2	chr12:105599435..105602379-chr12:105626303..105628956,2	K562	blood:
3	chr12:105620755..105625323-chr12:105625745..105629848,5	K562	blood:
4	chr12:105609511..105612358-chr12:105625566..105629291,3	K562	blood:
5	chr12:105499144..105502991-chr12:105627617..105631044,5	MCF-7	breast:
6	chr12:105501540..105503183-chr12:105627693..105630661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257999	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1882148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57393988	1.00[EUR][1000 genomes]
rs57448746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57456392	1.00[EUR][1000 genomes]
rs57618699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58301361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58969183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59143432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59811168	1.00[EUR][1000 genomes]
rs59840770	1.00[EUR][1000 genomes]
rs59935781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59955900	1.00[EUR][1000 genomes]
rs60167837	1.00[EUR][1000 genomes]
rs60230439	1.00[EUR][1000 genomes]
rs60294187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60495600	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60725801	1.00[EUR][1000 genomes]
rs61042175	1.00[EUR][1000 genomes]
rs61336075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61437377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304175	1.00[EUR][1000 genomes]
rs7307834	1.00[EUR][1000 genomes]
rs7314155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73393833	1.00[EUR][1000 genomes]
rs73393835	1.00[EUR][1000 genomes]
rs73393837	1.00[EUR][1000 genomes]
rs73393841	1.00[EUR][1000 genomes]
rs73393842	1.00[EUR][1000 genomes]
rs73393866	1.00[EUR][1000 genomes]
rs73393869	1.00[EUR][1000 genomes]
rs73393881	1.00[EUR][1000 genomes]
rs73393882	1.00[EUR][1000 genomes]
rs73395723	1.00[EUR][1000 genomes]
rs73395740	1.00[EUR][1000 genomes]
rs73395744	1.00[EUR][1000 genomes]
rs73395745	1.00[EUR][1000 genomes]
rs73395746	1.00[EUR][1000 genomes]
rs73395758	1.00[EUR][1000 genomes]
rs73395770	1.00[EUR][1000 genomes]
rs73395771	1.00[EUR][1000 genomes]
rs73395772	1.00[EUR][1000 genomes]
rs73395783	1.00[EUR][1000 genomes]
rs73395785	1.00[EUR][1000 genomes]
rs73397621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73397685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399742	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73399757	1.00[AMR][1000 genomes]
rs73399760	1.00[AMR][1000 genomes]
rs73399763	1.00[AMR][1000 genomes]
rs7959931	1.00[EUR][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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:105609200-105628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:105611200-105628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:105616600-105629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:105617000-105629000	Weak transcription	Esophagus	oesophagus
6	chr12:105617400-105629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:105621800-105628600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:105621800-105628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:105622000-105629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:105622400-105628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:105622800-105628400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:105623000-105628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:105623200-105628000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:105623400-105628600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:105623600-105628800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:105625000-105628800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:105625000-105628800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:105625200-105628000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:105625200-105628000	Enhancers	Right Ventricle	heart
20	chr12:105625400-105628200	Enhancers	Fetal Heart	heart
21	chr12:105625600-105628000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:105625600-105628000	Active TSS	Right Atrium	heart
23	chr12:105625600-105628000	Weak transcription	NHEK	skin
24	chr12:105625600-105628600	Weak transcription	Placenta	Placenta
25	chr12:105625600-105629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:105625600-105629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:105625800-105628600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:105625800-105628600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:105626000-105628000	Enhancers	Fetal Intestine Large	intestine
30	chr12:105626000-105628000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr12:105626000-105628200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:105626200-105628000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:105626200-105628200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:105626200-105628200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:105626200-105628200	Enhancers	Fetal Brain Male	brain
36	chr12:105626200-105628800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:105626400-105628800	Enhancers	Primary B cells from cord blood	blood
38	chr12:105626400-105629400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:105626600-105628000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:105626600-105628000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr12:105626600-105628000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr12:105626600-105628000	Enhancers	Psoas Muscle	Psoas
43	chr12:105626600-105628000	Genic enhancers	HSMM	muscle
44	chr12:105626600-105628400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:105626600-105628800	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:105626600-105628800	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr12:105626600-105629000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:105626600-105629200	Flanking Active TSS	Fetal Brain Female	brain
49	chr12:105626800-105628000	Enhancers	Fetal Kidney	kidney
50	chr12:105626800-105628000	Enhancers	Fetal Lung	lung

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