Variant report

Variant	rs12247660
Chromosome Location	chr10:5999497-5999498
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	chr10:5999303..6003344-chr10:6003662..6007961,5	MCF-7	breast:
2	chr10:5993943..5996506-chr10:5999317..6001462,2	K562	blood:

Variant related genes	Relation type
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2229135	0.80[AMR][1000 genomes]
rs2296140	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296141	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3136622	1.00[ASN][1000 genomes]
rs41294151	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8177734	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1041261	chr10:5962635-6052196	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1050983	chr10:5963921-6052196	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv519436	chr10:5997820-6008613	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv975792	chr10:5998348-6008505	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5969600-6012000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:5971400-6013200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr10:5980000-6013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr10:5980800-6017800	Weak transcription	Thymus	Thymus
5	chr10:5981000-6003600	Weak transcription	Primary T cells from cord blood	blood
6	chr10:5986200-6018600	Weak transcription	Aorta	Aorta
7	chr10:5987600-6018000	Weak transcription	Psoas Muscle	Psoas
8	chr10:5987800-6017800	Weak transcription	Fetal Thymus	thymus
9	chr10:5988000-6000800	Weak transcription	Colonic Mucosa	Colon
10	chr10:5988000-6001400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr10:5988200-6001800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:5988400-6001200	Weak transcription	Ovary	ovary
13	chr10:5988400-6001600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:5988600-6011800	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:5989200-6001600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:5989400-6001200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:5991400-6000800	Weak transcription	K562	blood
18	chr10:5991400-6004800	Weak transcription	Brain Anterior Caudate	brain
19	chr10:5993000-5999800	Weak transcription	HUVEC	blood vessel
20	chr10:5993200-6001600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:5993400-6000400	Weak transcription	NHLF	lung
22	chr10:5993600-6013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:5994000-6011000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr10:5994000-6012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:5994200-5999800	Weak transcription	Hela-S3	cervix
26	chr10:5994200-6012200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr10:5994200-6012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:5994800-6001800	Weak transcription	Stomach Mucosa	stomach
29	chr10:5995000-6004600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr10:5995400-6000400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:5995400-6001600	Weak transcription	Fetal Intestine Large	intestine
32	chr10:5995400-6012400	Weak transcription	Small Intestine	intestine
33	chr10:5995600-6001200	Weak transcription	Gastric	stomach
34	chr10:5995600-6001600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:5995800-6000400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:5996000-6000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr10:5996000-6000800	Weak transcription	Adipose Nuclei	Adipose
38	chr10:5996200-6000000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr10:5997600-6007600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:5997800-6003600	Strong transcription	Spleen	Spleen
41	chr10:5998200-6001200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr10:5998200-6006400	Strong transcription	Liver	Liver
43	chr10:5998400-6000200	Weak transcription	GM12878-XiMat	blood
44	chr10:5998600-6000400	Weak transcription	Left Ventricle	heart
45	chr10:5998800-6000200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:5998800-6000400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:5998800-6000400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:5998800-6000400	Weak transcription	Lung	lung
49	chr10:5998800-6000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:5998800-6000800	Weak transcription	Duodenum Mucosa	Duodenum

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