Variant report

Variant	rs549370291
Chromosome Location	chr6:53919767-53919768
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53918180..53920698-chr6:53921750..53923879,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv5307	chr6:53874118-53952230	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv523301	chr6:53896155-53921127	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1027036	chr6:53912335-53931843	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv7901	chr6:53914491-53981080	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv823691	chr6:53918427-53978766	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53913600-53926000	Weak transcription	Left Ventricle	heart
2	chr6:53918000-53923200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:53918800-53923200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:53918800-53925200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:53919200-53924000	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:53919400-53928200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:53919600-53919800	Weak transcription	Psoas Muscle	Psoas
8	chr6:53919600-53919800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:53919600-53919800	Enhancers	HSMM	muscle
10	chr6:53919600-53920000	Enhancers	Fetal Heart	heart
11	chr6:53919600-53920600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:53919600-53920600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:53919600-53921000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:53919600-53921200	Weak transcription	Adipose Nuclei	Adipose
15	chr6:53919600-53921200	Weak transcription	Right Ventricle	heart
16	chr6:53919600-53922400	Weak transcription	Fetal Brain Male	brain
17	chr6:53919600-53922400	Weak transcription	Fetal Intestine Large	intestine
18	chr6:53919600-53923000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:53919600-53923200	Weak transcription	Fetal Intestine Small	intestine
20	chr6:53919600-53923200	Weak transcription	Right Atrium	heart
21	chr6:53919600-53923800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:53919600-53924000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:53919600-53924400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:53919600-53924400	Weak transcription	HUVEC	blood vessel
25	chr6:53919600-53924400	Weak transcription	Osteobl	bone
26	chr6:53919600-53924600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:53919600-53924600	Weak transcription	Hela-S3	cervix
28	chr6:53919600-53924600	Weak transcription	NHLF	lung
29	chr6:53919600-53928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:53919600-53928400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:53919600-53928400	Weak transcription	Rectal Mucosa Donor 29	rectum

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