Variant report

Variant	rs4145261
Chromosome Location	chr12:106070999-106071000
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10507195	0.88[EUR][1000 genomes]
rs10778419	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2374537	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553449	0.88[EUR][1000 genomes]
rs7133311	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv560054	chr12:106048142-106083042	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106066600-106076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:106068200-106076200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:106068600-106071400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:106068800-106071400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:106069000-106071200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr12:106069000-106071400	Enhancers	Colon Smooth Muscle	Colon
7	chr12:106069200-106072400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:106069400-106072000	Enhancers	Left Ventricle	heart
9	chr12:106069400-106072800	Enhancers	Psoas Muscle	Psoas
10	chr12:106069600-106071200	Enhancers	Lung	lung
11	chr12:106069600-106071200	Enhancers	Stomach Mucosa	stomach
12	chr12:106069800-106071400	Enhancers	Colonic Mucosa	Colon
13	chr12:106070200-106071200	Enhancers	Right Atrium	heart
14	chr12:106070200-106072000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:106070400-106071200	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:106070400-106071400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:106070400-106071400	Enhancers	HUVEC	blood vessel
18	chr12:106070400-106071800	Enhancers	Esophagus	oesophagus
19	chr12:106070600-106071000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:106070600-106071200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:106070600-106071200	Enhancers	Right Ventricle	heart
22	chr12:106070600-106071400	Enhancers	Adipose Nuclei	Adipose
23	chr12:106070600-106072400	Enhancers	Fetal Muscle Leg	muscle
24	chr12:106070800-106071600	Weak transcription	Placenta	Placenta

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