Variant report

Variant	rs60999193
Chromosome Location	chr12:105620552-105620553
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105501403..105502983-chr12:105619326..105621354,2	MCF-7	breast:
2	chr12:105608225..105613366-chr12:105619333..105624104,5	MCF-7	breast:
3	chr12:105499627..105501658-chr12:105620143..105622423,2	K562	blood:
4	chr12:105609229..105612971-chr12:105615964..105620947,4	K562	blood:
5	chr12:105616267..105619374-chr12:105619746..105623496,4	MCF-7	breast:

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

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10083185	0.92[EUR][1000 genomes]
rs10161513	1.00[ASN][1000 genomes]
rs11112381	0.92[EUR][1000 genomes]
rs11112389	0.91[EUR][1000 genomes]
rs11112410	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112452	1.00[ASN][1000 genomes]
rs11559871	0.86[EUR][1000 genomes]
rs11829598	0.92[EUR][1000 genomes]
rs12299366	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299391	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301914	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304384	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305766	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307372	0.89[EUR][1000 genomes]
rs12308444	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12311156	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312965	0.92[EUR][1000 genomes]
rs12317637	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317804	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321199	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321518	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321534	0.83[EUR][1000 genomes]
rs12424095	1.00[ASN][1000 genomes]
rs12424191	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424709	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	0.92[EUR][1000 genomes]
rs56284118	0.92[EUR][1000 genomes]
rs56862143	0.92[EUR][1000 genomes]
rs58780154	1.00[ASN][1000 genomes]
rs59320697	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59593474	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60835294	0.92[EUR][1000 genomes]
rs7132816	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133728	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136453	0.92[EUR][1000 genomes]
rs7138574	0.89[EUR][1000 genomes]
rs7300130	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302842	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305406	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	0.92[EUR][1000 genomes]
rs7315964	0.92[EUR][1000 genomes]
rs73179990	0.92[EUR][1000 genomes]
rs73179996	0.92[EUR][1000 genomes]
rs73179998	0.92[EUR][1000 genomes]
rs73180001	0.92[EUR][1000 genomes]
rs73181810	1.00[ASN][1000 genomes]
rs73181818	1.00[ASN][1000 genomes]
rs73181822	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181825	1.00[ASN][1000 genomes]
rs73181843	1.00[ASN][1000 genomes]
rs73181852	1.00[ASN][1000 genomes]
rs73181856	1.00[ASN][1000 genomes]
rs73181857	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181869	1.00[ASN][1000 genomes]
rs7964184	0.92[EUR][1000 genomes]
rs7971630	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975115	1.00[ASN][1000 genomes]
rs7975787	0.89[EUR][1000 genomes]
rs7978034	0.92[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	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105578000-105623200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:105596400-105621800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:105600800-105626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:105609200-105622400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:105609200-105626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:105609200-105628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:105611200-105621200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:105611200-105628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:105611400-105621200	Weak transcription	Hela-S3	cervix
13	chr12:105611600-105621200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:105611600-105621600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:105611600-105626200	Weak transcription	Fetal Brain Male	brain
16	chr12:105611800-105621200	Weak transcription	Fetal Kidney	kidney
17	chr12:105612000-105624800	Genic enhancers	NHDF-Ad	bronchial
18	chr12:105612800-105624200	Strong transcription	Fetal Stomach	stomach
19	chr12:105613000-105623600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:105613800-105622000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:105616000-105621200	Weak transcription	HMEC	breast
22	chr12:105616400-105623200	Strong transcription	Fetal Brain Female	brain
23	chr12:105616600-105621000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:105616600-105629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:105617000-105620600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr12:105617000-105621200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:105617000-105621200	Weak transcription	Fetal Lung	lung
28	chr12:105617000-105623200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:105617000-105629000	Weak transcription	Esophagus	oesophagus
30	chr12:105617200-105621200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:105617400-105621000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:105617400-105622800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:105617400-105625400	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr12:105617400-105629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:105617600-105621000	Weak transcription	HepG2	liver
36	chr12:105617600-105625400	Strong transcription	A549	lung
37	chr12:105618000-105621200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:105618000-105621200	Weak transcription	Brain Germinal Matrix	brain
39	chr12:105618000-105621200	Weak transcription	Lung	lung
40	chr12:105618200-105621200	Enhancers	Brain Hippocampus Middle	brain
41	chr12:105618200-105625200	Weak transcription	Right Ventricle	heart
42	chr12:105618400-105620800	Weak transcription	Dnd41	blood
43	chr12:105618400-105621200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:105618600-105620600	Enhancers	Brain Anterior Caudate	brain
45	chr12:105618600-105621000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:105618600-105621000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:105618600-105621200	Weak transcription	Colonic Mucosa	Colon
48	chr12:105618600-105625200	Weak transcription	Spleen	Spleen
49	chr12:105618600-105626800	Weak transcription	Gastric	stomach
50	chr12:105619200-105620600	Enhancers	NHLF	lung

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