Variant report

Variant	rs547731264
Chromosome Location	chr6:37850048-37850049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37848628..37851263-chr6:37853706..37855828,2	K562	blood:
2	chr6:37841525..37843246-chr6:37846742..37850050,4	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	esv3472486	chr6:37849274-37853972	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37820000-37850200	Weak transcription	Fetal Kidney	kidney
2	chr6:37836400-37861800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:37837200-37856000	Weak transcription	NHEK	skin
4	chr6:37840200-37855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:37840400-37850200	Weak transcription	HMEC	breast
6	chr6:37840400-37860000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:37840600-37861800	Weak transcription	Primary T cells from cord blood	blood
8	chr6:37841200-37852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:37841600-37862400	Weak transcription	Fetal Lung	lung
10	chr6:37841800-37850400	Weak transcription	Fetal Intestine Small	intestine
11	chr6:37845400-37851600	Weak transcription	Fetal Heart	heart
12	chr6:37846000-37850200	Weak transcription	Fetal Stomach	stomach
13	chr6:37846000-37857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:37846000-37865200	Weak transcription	Thymus	Thymus
15	chr6:37846400-37850200	Weak transcription	Esophagus	oesophagus
16	chr6:37846400-37850600	Weak transcription	Ovary	ovary
17	chr6:37846400-37857000	Weak transcription	Right Atrium	heart
18	chr6:37846400-37859600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:37846600-37850400	Weak transcription	Psoas Muscle	Psoas
20	chr6:37846600-37856800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:37846800-37850800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:37846800-37851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:37846800-37857000	Weak transcription	Right Ventricle	heart
24	chr6:37847200-37850200	Enhancers	GM12878-XiMat	blood
25	chr6:37847600-37850200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:37848000-37850200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:37848000-37850200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:37848200-37852000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:37848200-37854400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:37848400-37854200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:37849000-37850200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:37849000-37850200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:37849000-37850400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:37849000-37850400	Enhancers	Primary B cells from peripheral blood	blood
35	chr6:37849000-37850400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:37849000-37850600	Enhancers	Primary B cells from cord blood	blood
37	chr6:37849000-37851000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:37849000-37851000	Enhancers	Liver	Liver
39	chr6:37849000-37851000	Enhancers	Placenta	Placenta
40	chr6:37849000-37851200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:37849200-37850200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:37849200-37850400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:37849200-37850400	Enhancers	Primary hematopoietic stem cells	blood
44	chr6:37849200-37850400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:37849200-37850600	Enhancers	HSMMtube	muscle
46	chr6:37849200-37850800	Enhancers	Colon Smooth Muscle	Colon
47	chr6:37849200-37851000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:37849200-37851000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:37849200-37851000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr6:37849200-37851200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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