Variant report

Variant	rs7294412
Chromosome Location	chr12:104705561-104705562
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104704742..104707621-chr12:104709723..104711445,2	K562	blood:
2	chr12:104689111..104691925-chr12:104705420..104707657,2	MCF-7	breast:
3	chr12:104702286..104704680-chr12:104705294..104708071,2	MCF-7	breast:
4	chr12:104704860..104707713-chr12:104711994..104713971,3	K562	blood:
5	chr12:104704401..104706096-chr12:104708198..104709837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10047589	0.90[ASN][1000 genomes]
rs10778322	0.92[ASN][1000 genomes]
rs10861186	0.89[ASN][1000 genomes]
rs10861200	0.87[ASN][1000 genomes]
rs11111993	0.92[ASN][1000 genomes]
rs11610799	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611385	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34015677	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34615738	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34621285	0.89[ASN][1000 genomes]
rs35359688	0.98[ASN][1000 genomes]
rs4411337	0.89[ASN][1000 genomes]
rs4564401	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964287	0.91[ASN][1000 genomes]
rs7138318	0.92[ASN][1000 genomes]
rs7300638	0.91[ASN][1000 genomes]
rs73180130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73181910	0.93[ASN][1000 genomes]
rs73181913	0.95[ASN][1000 genomes]
rs73181918	0.85[ASN][1000 genomes]
rs7977617	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:104697200-104706200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:104698000-104707400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:104698000-104707600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:104698000-104707800	Weak transcription	Esophagus	oesophagus
6	chr12:104698000-104711400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:104698000-104716200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:104698200-104706000	Weak transcription	Fetal Brain Male	brain
9	chr12:104698200-104706200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:104698200-104708400	Genic enhancers	HUVEC	blood vessel
11	chr12:104698200-104708800	Weak transcription	Colonic Mucosa	Colon
12	chr12:104698400-104705800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:104698400-104705800	Weak transcription	Fetal Brain Female	brain
14	chr12:104698400-104705800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:104698400-104706200	Weak transcription	Fetal Lung	lung
16	chr12:104698400-104707200	Weak transcription	Brain Substantia Nigra	brain
17	chr12:104698400-104707400	Weak transcription	Brain Angular Gyrus	brain
18	chr12:104698400-104707800	Weak transcription	Spleen	Spleen
19	chr12:104698400-104716600	Strong transcription	HSMM	muscle
20	chr12:104698400-104718400	Weak transcription	Stomach Mucosa	stomach
21	chr12:104698400-104720600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:104698400-104747600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:104698600-104706000	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:104698600-104716200	Strong transcription	NHEK	skin
25	chr12:104699400-104706800	Weak transcription	Brain Anterior Caudate	brain
26	chr12:104699400-104707600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:104699400-104728400	Weak transcription	Fetal Heart	heart
28	chr12:104700200-104706000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:104700600-104706000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:104701000-104724400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:104701400-104706000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:104701400-104706200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:104701400-104707000	Weak transcription	Small Intestine	intestine
34	chr12:104701400-104707600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:104701600-104705800	Weak transcription	Fetal Kidney	kidney
36	chr12:104701600-104705800	Weak transcription	Psoas Muscle	Psoas
37	chr12:104701600-104705800	Weak transcription	Right Ventricle	heart
38	chr12:104701600-104709000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:104701600-104733600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:104701800-104707600	Strong transcription	Osteobl	bone
41	chr12:104702000-104707400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:104702000-104716200	Strong transcription	NH-A	brain
43	chr12:104702000-104733600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:104702400-104705600	Genic enhancers	Hela-S3	cervix
45	chr12:104702400-104715600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:104702400-104746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:104702400-104747400	Strong transcription	Dnd41	blood
48	chr12:104702600-104716400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:104702800-104705600	Transcr. at gene 5' and 3'	A549	lung
50	chr12:104703000-104707600	Strong transcription	NHDF-Ad	bronchial

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