Variant report

Variant	rs553527410
Chromosome Location	chr6:13248723-13248724
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13246618..13250195-chr6:13274363..13276198,3	K562	blood:

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

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	nsv432849	chr6:13225077-13253733	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	esv1815942	chr6:13235495-13250588	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1817130	chr6:13235495-13250588	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1830412	chr6:13235495-13250588	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1832850	chr6:13235495-13250588	Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1846185	chr6:13235495-13250588	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1848354	chr6:13235495-13250588	Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv981320	chr6:13247460-13253055	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	esv3345472	chr6:13248713-13249122	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13230600-13253400	Weak transcription	Spleen	Spleen
2	chr6:13233200-13256000	Weak transcription	Right Ventricle	heart
3	chr6:13234600-13267200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:13237600-13252800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:13239000-13253200	Weak transcription	Aorta	Aorta
6	chr6:13240200-13251200	Weak transcription	Left Ventricle	heart
7	chr6:13241200-13250200	Weak transcription	Fetal Heart	heart
8	chr6:13241600-13251200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:13242800-13256000	Weak transcription	Pancreas	Pancrea
10	chr6:13244000-13250400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:13244400-13250200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:13245000-13250200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:13246600-13249800	Enhancers	Fetal Brain Male	brain
14	chr6:13247800-13248800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:13247800-13249600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:13248000-13248800	Enhancers	Brain Germinal Matrix	brain
17	chr6:13248000-13249000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:13248000-13249000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:13248000-13249000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:13248000-13249000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:13248000-13249000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:13248000-13249000	Enhancers	Brain Angular Gyrus	brain
23	chr6:13248000-13249200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:13248000-13249200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:13248000-13249200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:13248000-13249200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:13248000-13249200	Enhancers	HepG2	liver
28	chr6:13248000-13249200	Enhancers	HMEC	breast
29	chr6:13248000-13249200	Enhancers	NHEK	skin
30	chr6:13248000-13249400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:13248000-13249600	Enhancers	Fetal Muscle Leg	muscle
32	chr6:13248200-13248800	Enhancers	Fetal Stomach	stomach
33	chr6:13248200-13249000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:13248200-13249000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:13248200-13249000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:13248200-13249000	Enhancers	Fetal Brain Female	brain
37	chr6:13248200-13249000	Enhancers	HSMM	muscle
38	chr6:13248200-13249200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:13248200-13249200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:13248200-13249200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:13248200-13249200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:13248200-13249200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:13248200-13249200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:13248200-13249200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:13248200-13249200	Enhancers	HSMMtube	muscle
46	chr6:13248200-13249400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:13248200-13249400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:13248200-13249400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:13248200-13249600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr6:13248200-13249600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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