Variant report

Variant	rs12540031
Chromosome Location	chr7:120620436-120620437
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120614613..120620636-chr7:120722021..120725742,5	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10085399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10085545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10156133	1.00[AMR][1000 genomes]
rs10228463	1.00[AMR][1000 genomes]
rs10231429	1.00[AMR][1000 genomes]
rs10239339	1.00[AMR][1000 genomes]
rs10241872	1.00[AMR][1000 genomes]
rs10243869	1.00[AMR][1000 genomes]
rs10256185	1.00[AMR][1000 genomes]
rs10260155	1.00[AMR][1000 genomes]
rs10269373	1.00[AMR][1000 genomes]
rs10277685	1.00[AMR][1000 genomes]
rs10281679	1.00[AMR][1000 genomes]
rs12531744	1.00[AMR][1000 genomes]
rs12537910	1.00[AMR][1000 genomes]
rs12538483	1.00[AMR][1000 genomes]
rs12539312	1.00[AMR][1000 genomes]
rs12539365	1.00[AMR][1000 genomes]
rs12540028	1.00[AMR][1000 genomes]
rs28366865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28545438	1.00[AMR][1000 genomes]
rs28582920	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627810	1.00[AMR][1000 genomes]
rs28676720	1.00[AMR][1000 genomes]
rs28696320	1.00[AMR][1000 genomes]
rs6946429	1.00[AMR][1000 genomes]
rs6959281	1.00[AMR][1000 genomes]
rs6966333	1.00[AMR][1000 genomes]
rs6970044	1.00[AMR][1000 genomes]
rs7791680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120591600-120627800	Weak transcription	Pancreas	Pancrea
2	chr7:120592400-120621600	Weak transcription	Aorta	Aorta
3	chr7:120592400-120628000	Weak transcription	Stomach Mucosa	stomach
4	chr7:120604400-120621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:120608200-120621800	Weak transcription	NHEK	skin
6	chr7:120608600-120627600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:120609400-120622400	Weak transcription	Gastric	stomach
8	chr7:120609400-120627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:120609400-120627800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:120609400-120628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:120611600-120621800	Weak transcription	HMEC	breast
12	chr7:120611600-120622000	Weak transcription	Fetal Intestine Small	intestine
13	chr7:120611600-120622200	Weak transcription	HSMMtube	muscle
14	chr7:120611600-120624000	Weak transcription	Fetal Brain Male	brain
15	chr7:120611600-120626200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:120611600-120627400	Weak transcription	Brain Angular Gyrus	brain
17	chr7:120611600-120627600	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:120611600-120627600	Weak transcription	Fetal Stomach	stomach
19	chr7:120611600-120627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:120611600-120627800	Weak transcription	Esophagus	oesophagus
21	chr7:120611600-120627800	Weak transcription	Thymus	Thymus
22	chr7:120611800-120621800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:120615000-120627600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:120615200-120621800	Weak transcription	GM12878-XiMat	blood
25	chr7:120615400-120621800	Weak transcription	K562	blood
26	chr7:120615400-120627800	Weak transcription	Colonic Mucosa	Colon
27	chr7:120615400-120628000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:120615600-120621600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:120615600-120621800	Weak transcription	Brain Substantia Nigra	brain
30	chr7:120615600-120622000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:120615600-120622000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:120615600-120624400	Weak transcription	Hela-S3	cervix
33	chr7:120615600-120627400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:120615600-120627600	Weak transcription	Brain Anterior Caudate	brain
35	chr7:120615600-120627800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:120615600-120627800	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:120615600-120627800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:120615600-120628000	Weak transcription	Small Intestine	intestine
39	chr7:120615800-120627800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:120616000-120621800	Weak transcription	NH-A	brain
41	chr7:120616000-120627400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:120616000-120627600	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:120616200-120621800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:120616200-120627400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:120616200-120627400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:120616200-120627400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:120616200-120627800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:120616200-120627800	Weak transcription	Fetal Intestine Large	intestine
49	chr7:120616600-120627600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:120616600-120627600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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