Variant report

Variant	rs17518183
Chromosome Location	chr12:40453364-40453365
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39935467..39937094-chr12:40451858..40454102,2	K562	blood:
2	12:40441273-40454218..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

rs_ID	r²[population]
rs17442095	1.00[JPT][hapmap]
rs17442346	1.00[JPT][hapmap]
rs17442353	1.00[JPT][hapmap]
rs17442490	1.00[JPT][hapmap]
rs17442882	1.00[JPT][hapmap]
rs17443421	1.00[JPT][hapmap]
rs17458257	1.00[JPT][hapmap]
rs17458494	1.00[JPT][hapmap]
rs17458745	1.00[JPT][hapmap]
rs17458773	1.00[JPT][hapmap]
rs17458974	1.00[JPT][hapmap]
rs17460894	1.00[JPT][hapmap]
rs17460992	1.00[JPT][hapmap]
rs17465716	1.00[JPT][hapmap]
rs17465849	1.00[JPT][hapmap]
rs17483502	1.00[JPT][hapmap]
rs17489459	1.00[JPT][hapmap]
rs17489480	1.00[JPT][hapmap]
rs17489666	1.00[JPT][hapmap]
rs17490013	1.00[JPT][hapmap]
rs17490578	1.00[JPT][hapmap]
rs17490620	1.00[JPT][hapmap]
rs17490762	1.00[JPT][hapmap]
rs17518014	1.00[JPT][hapmap]
rs17518050	1.00[JPT][hapmap]
rs17518427	1.00[JPT][hapmap]
rs17518441	1.00[JPT][hapmap]
rs17518476	1.00[JPT][hapmap]
rs17518672	1.00[JPT][hapmap]
rs17518735	1.00[JPT][hapmap]
rs28365202	1.00[JPT][hapmap]
rs28370603	1.00[JPT][hapmap]
rs28370641	1.00[JPT][hapmap]
rs28370650	1.00[JPT][hapmap]
rs28370657	1.00[JPT][hapmap]
rs28370695	1.00[JPT][hapmap]
rs28370698	1.00[JPT][hapmap]
rs28370706	1.00[JPT][hapmap]
rs28370720	1.00[JPT][hapmap]
rs28370728	1.00[JPT][hapmap]
rs28370730	1.00[JPT][hapmap]
rs28370743	1.00[JPT][hapmap]
rs28370759	1.00[JPT][hapmap]
rs28370766	1.00[JPT][hapmap]
rs28370770	1.00[JPT][hapmap]
rs28370777	1.00[JPT][hapmap]
rs28370778	1.00[JPT][hapmap]
rs28370782	1.00[JPT][hapmap]
rs28370784	1.00[JPT][hapmap]
rs28370786	1.00[JPT][hapmap]
rs28370792	1.00[JPT][hapmap]
rs28370801	1.00[JPT][hapmap]
rs28370811	1.00[JPT][hapmap]
rs28370814	1.00[JPT][hapmap]
rs28370825	1.00[JPT][hapmap]

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40421600-40453400	Weak transcription	Left Ventricle	heart
2	chr12:40444000-40453400	Weak transcription	Right Ventricle	heart
3	chr12:40449200-40457000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:40451200-40455000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:40451400-40453400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:40452000-40458600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:40452200-40453400	Enhancers	Hela-S3	cervix
8	chr12:40452200-40453800	Enhancers	Brain Germinal Matrix	brain
9	chr12:40452400-40453400	Enhancers	Brain Angular Gyrus	brain
10	chr12:40452600-40453400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:40452600-40453400	Enhancers	Rectal Smooth Muscle	rectum
12	chr12:40452800-40453600	Enhancers	Brain Cingulate Gyrus	brain
13	chr12:40452800-40453600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr12:40452800-40453600	Enhancers	Stomach Smooth Muscle	stomach
15	chr12:40452800-40454000	Weak transcription	Brain Substantia Nigra	brain
16	chr12:40452800-40460000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:40453000-40455600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:40453000-40457000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:40453000-40457400	Weak transcription	Brain Anterior Caudate	brain
20	chr12:40453200-40456600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:40453200-40457200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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