Variant report

Variant	rs60868839
Chromosome Location	chr5:95166542-95166543
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	chr5:95165646..95168602-chr5:95177618..95179620,3	MCF-7	breast:
2	chr5:95164709..95167343-chr5:95169252..95170958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251000	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13361485	0.81[ASN][1000 genomes]
rs13361488	0.81[ASN][1000 genomes]
rs2546194	0.82[ASN][1000 genomes]
rs35234911	0.81[ASN][1000 genomes]
rs3756704	0.84[ASN][1000 genomes]
rs7725607	0.83[ASN][1000 genomes]
rs918469	0.81[ASN][1000 genomes]
rs918470	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95159800-95169800	Weak transcription	Fetal Kidney	kidney
2	chr5:95160200-95169800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:95160600-95168800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:95160600-95170000	Weak transcription	Right Atrium	heart
5	chr5:95160600-95170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:95160800-95168000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:95160800-95168200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:95160800-95168800	Weak transcription	Placenta	Placenta
9	chr5:95160800-95169000	Weak transcription	Psoas Muscle	Psoas
10	chr5:95160800-95169800	Weak transcription	Fetal Heart	heart
11	chr5:95160800-95169800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:95161400-95168400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:95161600-95171400	Weak transcription	Small Intestine	intestine
14	chr5:95161800-95168000	Weak transcription	GM12878-XiMat	blood
15	chr5:95161800-95168800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:95161800-95169800	Weak transcription	Thymus	Thymus
17	chr5:95161800-95170000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:95162000-95168000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:95162000-95168200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:95162400-95168000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:95162400-95169600	Weak transcription	Hela-S3	cervix
22	chr5:95163600-95168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:95164000-95167400	Weak transcription	Primary T cells from cord blood	blood
24	chr5:95164000-95167400	Weak transcription	Dnd41	blood
25	chr5:95164200-95168000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:95164200-95168400	Weak transcription	A549	lung
27	chr5:95164200-95168600	Weak transcription	Stomach Mucosa	stomach
28	chr5:95164200-95171400	Weak transcription	Spleen	Spleen
29	chr5:95164400-95168400	Weak transcription	Primary B cells from cord blood	blood
30	chr5:95164400-95168400	Weak transcription	Liver	Liver
31	chr5:95164400-95169000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:95164400-95169800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:95164600-95168800	Weak transcription	Fetal Thymus	thymus
34	chr5:95164600-95169000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:95164600-95169800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:95164800-95167800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:95164800-95168000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:95164800-95168000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr5:95164800-95168800	Weak transcription	HepG2	liver
40	chr5:95164800-95169000	Weak transcription	Fetal Intestine Large	intestine
41	chr5:95164800-95169600	Weak transcription	Fetal Intestine Small	intestine
42	chr5:95164800-95170200	Weak transcription	Colonic Mucosa	Colon
43	chr5:95164800-95170400	Weak transcription	Lung	lung
44	chr5:95166000-95166800	Enhancers	K562	blood
45	chr5:95166200-95168000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr5:95166400-95166800	Enhancers	Gastric	stomach

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