Variant report

Variant	rs12513728
Chromosome Location	chr5:95161745-95161746
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:95161244-95161853	K562	blood:	n/a	n/a
2	GATA1	chr5:95161209-95161896	PBDE	blood:	n/a	chr5:95161497-95161504 chr5:95161496-95161506 chr5:95161494-95161504 chr5:95161495-95161507 chr5:95161497-95161506
3	GATA1	chr5:95161055-95161935	K562	blood:	n/a	chr5:95161497-95161504 chr5:95161496-95161506 chr5:95161494-95161504 chr5:95161495-95161507 chr5:95161497-95161506

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95160713..95163370-chr5:95164070..95166105,2	MCF-7	breast:
2	chr5:95156277..95158130-chr5:95161683..95164482,2	K562	blood:

Variant related genes	Relation type
GLRX	TF binding region
ENSG00000173221	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs29000870	0.82[YRI][hapmap]
rs3777209	0.85[JPT][hapmap]
rs3797205	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs60436833	0.90[EUR][1000 genomes]
rs61289286	0.98[EUR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95158800-95164800	Enhancers	Fetal Intestine Large	intestine
2	chr5:95159800-95162600	Enhancers	Liver	Liver
3	chr5:95159800-95164800	Enhancers	Fetal Intestine Small	intestine
4	chr5:95159800-95169800	Weak transcription	Fetal Kidney	kidney
5	chr5:95160000-95161800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:95160000-95161800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr5:95160000-95162000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:95160000-95162000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:95160200-95161800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:95160200-95161800	Enhancers	Thymus	Thymus
11	chr5:95160200-95161800	Enhancers	HSMM	muscle
12	chr5:95160200-95162000	Enhancers	Duodenum Mucosa	Duodenum
13	chr5:95160200-95162200	Enhancers	Fetal Thymus	thymus
14	chr5:95160200-95164800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:95160200-95169800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:95160400-95161800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:95160400-95161800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:95160400-95161800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:95160400-95162000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:95160400-95162400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:95160400-95162600	Enhancers	HepG2	liver
22	chr5:95160600-95161800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:95160600-95162000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:95160600-95162000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr5:95160600-95162000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:95160600-95162000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:95160600-95162200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:95160600-95162800	Weak transcription	Adipose Nuclei	Adipose
29	chr5:95160600-95162800	Weak transcription	Stomach Mucosa	stomach
30	chr5:95160600-95163200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:95160600-95163400	Weak transcription	Colonic Mucosa	Colon
32	chr5:95160600-95168800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:95160600-95170000	Weak transcription	Right Atrium	heart
34	chr5:95160600-95170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:95160800-95161800	Enhancers	Dnd41	blood
36	chr5:95160800-95162000	Enhancers	Primary T cells from cord blood	blood
37	chr5:95160800-95162000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:95160800-95162000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr5:95160800-95162400	Enhancers	Hela-S3	cervix
40	chr5:95160800-95162800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:95160800-95162800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:95160800-95163000	Weak transcription	Lung	lung
43	chr5:95160800-95163000	Weak transcription	Right Ventricle	heart
44	chr5:95160800-95166400	Weak transcription	Gastric	stomach
45	chr5:95160800-95168000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:95160800-95168200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:95160800-95168800	Weak transcription	Placenta	Placenta
48	chr5:95160800-95169000	Weak transcription	Psoas Muscle	Psoas
49	chr5:95160800-95169800	Weak transcription	Fetal Heart	heart
50	chr5:95160800-95169800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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