Variant report

Variant	rs78300422
Chromosome Location	chr6:128516512-128516513
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
5	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
6	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
7	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
8	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
9	esv3473317	chr6:128516046-128516816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	esv3473316	chr6:128516076-128516800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv3473318	chr6:128516076-128516800	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128465600-128523200	Weak transcription	Left Ventricle	heart
2	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
3	chr6:128490000-128520200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:128492600-128567800	Weak transcription	Ovary	ovary
5	chr6:128494400-128526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:128495000-128523400	Weak transcription	HSMMtube	muscle
7	chr6:128503200-128541800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:128505800-128523200	Weak transcription	Fetal Thymus	thymus
9	chr6:128505800-128525600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:128505800-128525600	Weak transcription	NHEK	skin
11	chr6:128505800-128538800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:128505800-128552200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:128506000-128523600	Weak transcription	HepG2	liver
14	chr6:128506000-128561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:128510200-128518800	Weak transcription	Primary B cells from cord blood	blood
16	chr6:128510200-128521000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:128513600-128525600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:128514000-128530600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:128515800-128516800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:128515800-128517000	Enhancers	HMEC	breast
21	chr6:128516000-128524800	Weak transcription	HSMM	muscle
22	chr6:128516000-128530400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:128516200-128516600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:128516400-128516800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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