Variant report

Variant	rs12671499
Chromosome Location	chr7:120651976-120651977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120651629..120654433-chr7:120773346..120775726,2	K562	blood:
2	chr7:120651881..120654026-chr7:120689747..120692732,2	K562	blood:
3	chr7:120651556..120653799-chr7:120654229..120655864,2	K562	blood:

Variant related genes	Relation type
ENSG00000234927	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10245811	0.86[EUR][1000 genomes]
rs11976117	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12666371	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16870531	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41696	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41699	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41700	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41701	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41705	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730984	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62470917	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7782014	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7802570	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7802665	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[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	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
2	chr7:120646800-120652600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:120647000-120655200	Weak transcription	Right Atrium	heart
4	chr7:120647200-120652000	Weak transcription	Adipose Nuclei	Adipose
5	chr7:120647200-120657000	Weak transcription	Fetal Kidney	kidney
6	chr7:120647200-120658800	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:120647400-120652600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:120647400-120652600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:120647400-120656600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:120647600-120656200	Weak transcription	NHLF	lung
11	chr7:120647800-120657800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:120648000-120652000	Weak transcription	Liver	Liver
13	chr7:120648000-120652400	Weak transcription	HSMMtube	muscle
14	chr7:120648000-120653000	Weak transcription	Fetal Stomach	stomach
15	chr7:120648000-120653000	Weak transcription	Spleen	Spleen
16	chr7:120648000-120655200	Weak transcription	Ovary	ovary
17	chr7:120648000-120655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:120648000-120656200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:120648000-120656400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:120648600-120652000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:120649400-120652200	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:120649400-120652400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:120649400-120652600	Weak transcription	Aorta	Aorta
24	chr7:120649400-120652600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:120649400-120663600	Weak transcription	Left Ventricle	heart
26	chr7:120649600-120652600	Weak transcription	Psoas Muscle	Psoas
27	chr7:120650600-120652000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:120651400-120655600	Weak transcription	NHDF-Ad	bronchial
29	chr7:120651600-120652600	Strong transcription	K562	blood
30	chr7:120651800-120652200	Weak transcription	Fetal Lung	lung
31	chr7:120651800-120652400	Weak transcription	HSMM	muscle
32	chr7:120651800-120656400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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