Variant report

Variant	rs12393
Chromosome Location	chr6:24650237-24650238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24645419..24648668-chr6:24649660..24654397,7	K562	blood:
2	chr6:24649500..24652136-chr6:24718347..24721312,2	K562	blood:

Variant related genes	Relation type
ENSG00000112308	Chromatin interaction
ENSG00000137261	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085192	0.82[ASN][1000 genomes]
rs16889581	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs17243499	0.82[ASN][1000 genomes]
rs17243513	0.82[ASN][1000 genomes]
rs17249855	0.82[ASN][1000 genomes]
rs17249952	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs6907640	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs6911150	0.82[ASN][1000 genomes]
rs6920675	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs9295629	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs9461051	1.00[CHB][hapmap]
rs9467250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9467266	1.00[JPT][hapmap]
rs9467267	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv601164	chr6:24625091-24661599	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv601165	chr6:24632642-24666007	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24646400-24658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:24646600-24652200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:24646600-24655800	Weak transcription	Aorta	Aorta
4	chr6:24646800-24650400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:24646800-24650400	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:24646800-24650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:24646800-24650400	Weak transcription	HSMM	muscle
8	chr6:24646800-24650600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:24646800-24650600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:24646800-24650600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:24646800-24650800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:24646800-24651800	Weak transcription	Fetal Stomach	stomach
13	chr6:24646800-24651800	Weak transcription	Left Ventricle	heart
14	chr6:24646800-24651800	Weak transcription	Psoas Muscle	Psoas
15	chr6:24646800-24652000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:24646800-24652000	Weak transcription	Ovary	ovary
17	chr6:24646800-24652400	Weak transcription	Fetal Lung	lung
18	chr6:24646800-24652600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:24646800-24652600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:24646800-24653000	Weak transcription	HSMMtube	muscle
21	chr6:24646800-24653200	Weak transcription	Fetal Brain Male	brain
22	chr6:24646800-24653200	Weak transcription	Gastric	stomach
23	chr6:24646800-24655600	Weak transcription	Pancreas	Pancrea
24	chr6:24646800-24662400	Weak transcription	Right Ventricle	heart
25	chr6:24646800-24662600	Weak transcription	Spleen	Spleen
26	chr6:24646800-24666000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:24647000-24650400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:24647000-24650400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:24647000-24650400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:24647000-24650400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:24647000-24650400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:24647000-24650400	Weak transcription	Adipose Nuclei	Adipose
33	chr6:24647000-24650400	Weak transcription	Liver	Liver
34	chr6:24647000-24650400	Weak transcription	Brain Substantia Nigra	brain
35	chr6:24647000-24650400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:24647000-24650400	Weak transcription	GM12878-XiMat	blood
37	chr6:24647000-24650400	Weak transcription	K562	blood
38	chr6:24647000-24650400	Weak transcription	NHLF	lung
39	chr6:24647000-24650600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:24647000-24650600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr6:24647000-24650600	Weak transcription	Colonic Mucosa	Colon
42	chr6:24647000-24650600	Weak transcription	Fetal Brain Female	brain
43	chr6:24647000-24650600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:24647000-24650600	Weak transcription	Thymus	Thymus
45	chr6:24647000-24650600	Weak transcription	Osteobl	bone
46	chr6:24647000-24650800	Weak transcription	Brain Anterior Caudate	brain
47	chr6:24647000-24650800	Weak transcription	Fetal Heart	heart
48	chr6:24647000-24650800	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:24647000-24651000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:24647000-24651800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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