Variant report

Variant	rs4596504
Chromosome Location	chr6:128496557-128496558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11753971	0.84[GIH][hapmap];1.00[MKK][hapmap]
rs4573107	1.00[CHD][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap]
rs6569519	1.00[CHD][hapmap]
rs9321104	1.00[CHD][hapmap]
rs9398863	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv886650	chr6:128403745-128513395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1031827	chr6:128418702-128497881	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv528869	chr6:128421762-128496557	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv604646	chr6:128421762-128531651	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv604647	chr6:128421762-128547177	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv886651	chr6:128450019-128565778	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv886652	chr6:128455539-128496557	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv886653	chr6:128455539-128555805	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv886654	chr6:128471938-128555805	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv970349	chr6:128494061-128498398	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128452600-128505200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:128461400-128504400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:128465600-128504400	Weak transcription	Fetal Thymus	thymus
4	chr6:128465600-128523200	Weak transcription	Left Ventricle	heart
5	chr6:128477800-128504200	Weak transcription	HSMM	muscle
6	chr6:128488200-128508000	Weak transcription	Aorta	Aorta
7	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
8	chr6:128489000-128507800	Weak transcription	NHLF	lung
9	chr6:128489600-128505200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:128489800-128504600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:128489800-128514200	Weak transcription	Gastric	stomach
12	chr6:128490000-128498600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:128490000-128511600	Weak transcription	Pancreas	Pancrea
14	chr6:128490000-128520200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:128492600-128504800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:128492600-128567800	Weak transcription	Ovary	ovary
17	chr6:128492800-128501400	Weak transcription	Primary B cells from cord blood	blood
18	chr6:128494400-128498600	Weak transcription	Psoas Muscle	Psoas
19	chr6:128494400-128526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:128494800-128504400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:128494800-128504600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:128495000-128504200	Weak transcription	HMEC	breast
23	chr6:128495000-128504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:128495000-128504800	Weak transcription	Osteobl	bone
25	chr6:128495000-128505400	Weak transcription	NH-A	brain
26	chr6:128495000-128523400	Weak transcription	HSMMtube	muscle
27	chr6:128495600-128496600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:128495600-128501200	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:128495600-128504600	Weak transcription	NHEK	skin
30	chr6:128495800-128504400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:128495800-128504400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:128496200-128496600	Enhancers	HepG2	liver
33	chr6:128496200-128504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:128496400-128496800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr6:128496400-128505800	Weak transcription	Fetal Heart	heart

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