Variant report

Variant	rs553912012
Chromosome Location	chr6:37946878-37946879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2761037	chr6:37930659-37966762	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3387125	chr6:37946848-37947227	Weak transcription Enhancers	n/a	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	chr6:37922800-37957600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:37922800-37958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:37923600-37947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:37926800-37955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:37929400-37947800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:37929400-37953200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37934400-37949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:37934800-37947400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:37935000-37947000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:37935200-37947000	Weak transcription	NHEK	skin
11	chr6:37936600-37947400	Weak transcription	Left Ventricle	heart
12	chr6:37939400-37947400	Weak transcription	Ovary	ovary
13	chr6:37940400-37948600	Weak transcription	HSMMtube	muscle
14	chr6:37941200-37947000	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:37942400-37953200	Weak transcription	Esophagus	oesophagus
16	chr6:37942800-37947200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:37942800-37947200	Weak transcription	A549	lung
18	chr6:37942800-37947800	Weak transcription	Fetal Intestine Small	intestine
19	chr6:37942800-37949600	Weak transcription	Spleen	Spleen
20	chr6:37942800-37953600	Weak transcription	HepG2	liver
21	chr6:37942800-37956800	Weak transcription	Aorta	Aorta
22	chr6:37943000-37947000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:37943000-37947000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:37943000-37947200	Weak transcription	Fetal Lung	lung
25	chr6:37943000-37947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:37943000-37947800	Weak transcription	Adipose Nuclei	Adipose
27	chr6:37943000-37948800	Weak transcription	HSMM	muscle
28	chr6:37943000-37949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:37943000-37951600	Weak transcription	NHDF-Ad	bronchial
30	chr6:37943000-37953000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:37943000-37955800	Weak transcription	Fetal Heart	heart
32	chr6:37943200-37947200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:37943200-37947200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:37943200-37947400	Weak transcription	Liver	Liver
35	chr6:37943200-37951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:37943600-37951800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:37943600-37952400	Weak transcription	Gastric	stomach
38	chr6:37943800-37947000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:37944800-37947400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr6:37944800-37947800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:37944800-37952000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:37945000-37947200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:37945000-37947800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:37945600-37947800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:37945800-37949800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:37946000-37947200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:37946000-37947400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:37946200-37947200	Weak transcription	Right Ventricle	heart
49	chr6:37946200-37950400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:37946200-37953200	Weak transcription	GM12878-XiMat	blood

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