Variant report

Variant	rs11973850
Chromosome Location	chr7:150492578-150492579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150486381..150487981-chr7:150491980..150493597,2	K562	blood:
2	chr7:150490163..150495069-chr7:150496481..150500897,6	K562	blood:

Variant related genes	Relation type
ENSG00000002933	Chromatin interaction
ENSG00000106565	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11972223	1.00[EUR][1000 genomes]
rs11977474	1.00[EUR][1000 genomes]
rs11981041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28690331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58281055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59056007	1.00[EUR][1000 genomes]
rs59483069	1.00[EUR][1000 genomes]
rs59997037	1.00[EUR][1000 genomes]
rs73478442	1.00[EUR][1000 genomes]
rs7788154	1.00[EUR][1000 genomes]
rs7788229	1.00[EUR][1000 genomes]
rs7807202	1.00[EUR][1000 genomes]
rs7808266	1.00[EUR][1000 genomes]
rs9969122	1.00[AMR][1000 genomes];1.00[EUR][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	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150485600-150496200	Weak transcription	Brain Substantia Nigra	brain
2	chr7:150486000-150496200	Weak transcription	Brain Anterior Caudate	brain
3	chr7:150486200-150492600	Weak transcription	Esophagus	oesophagus
4	chr7:150486200-150493000	Weak transcription	Stomach Mucosa	stomach
5	chr7:150486600-150496600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:150486800-150492600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:150486800-150492600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr7:150487800-150493000	Strong transcription	Fetal Muscle Leg	muscle
9	chr7:150488200-150492800	Strong transcription	Ovary	ovary
10	chr7:150488400-150492600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:150489000-150496200	Weak transcription	Small Intestine	intestine
12	chr7:150489200-150494000	Strong transcription	Fetal Stomach	stomach
13	chr7:150489800-150496600	Weak transcription	Gastric	stomach
14	chr7:150489800-150496800	Weak transcription	Left Ventricle	heart
15	chr7:150490400-150496400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:150490400-150496600	Weak transcription	Right Atrium	heart
17	chr7:150490400-150496600	Weak transcription	Right Ventricle	heart
18	chr7:150491200-150492600	Genic enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:150491200-150492800	Genic enhancers	Fetal Intestine Small	intestine
20	chr7:150491400-150492800	Genic enhancers	Fetal Intestine Large	intestine
21	chr7:150491800-150493800	Genic enhancers	Monocytes-CD14+_RO01746	blood
22	chr7:150492000-150492800	ZNF genes & repeats	Pancreas	Pancrea
23	chr7:150492000-150492800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
24	chr7:150492000-150493800	Genic enhancers	Liver	Liver
25	chr7:150492200-150492800	Strong transcription	Rectal Smooth Muscle	rectum
26	chr7:150492200-150493000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:150492200-150493200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:150492400-150493000	Strong transcription	Placenta	Placenta
29	chr7:150492400-150493800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:150492400-150494600	Weak transcription	Fetal Heart	heart
31	chr7:150492400-150496200	Weak transcription	Colonic Mucosa	Colon

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