Variant report

Variant	rs549268995
Chromosome Location	chr6:167462969-167462970
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	chr6:167433511..167435298-chr6:167462855..167465719,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
7	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
9	nsv464140	chr6:167426681-167492552	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv886943	chr6:167440244-167502638	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv519550	chr6:167450609-167473685	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv1841903	chr6:167459596-167489090	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv1824563	chr6:167461501-167489090	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv1837292	chr6:167461501-167489090	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	esv1840181	chr6:167461562-167489090	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167441400-167473400	Weak transcription	Psoas Muscle	Psoas
2	chr6:167448200-167467200	Weak transcription	HMEC	breast
3	chr6:167448400-167467200	Weak transcription	NHEK	skin
4	chr6:167449000-167467800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:167449000-167470400	Weak transcription	Brain Anterior Caudate	brain
6	chr6:167450000-167467400	Weak transcription	Ovary	ovary
7	chr6:167450200-167463000	Weak transcription	Brain Germinal Matrix	brain
8	chr6:167450600-167463000	Weak transcription	Fetal Brain Female	brain
9	chr6:167451600-167463600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:167451600-167467000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:167451600-167467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:167451600-167468400	Weak transcription	Esophagus	oesophagus
13	chr6:167454000-167463400	Weak transcription	Aorta	Aorta
14	chr6:167454000-167464600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:167454400-167463200	Weak transcription	Brain Substantia Nigra	brain
16	chr6:167454600-167464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:167455000-167470600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:167455200-167467600	Weak transcription	Liver	Liver
19	chr6:167456200-167467000	Weak transcription	Left Ventricle	heart
20	chr6:167456200-167467400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:167456200-167468400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:167456200-167470800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:167456600-167463000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:167456600-167473200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:167456800-167467200	Weak transcription	Right Ventricle	heart
26	chr6:167458400-167463800	Weak transcription	Pancreas	Pancrea
27	chr6:167458400-167465800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:167458400-167471200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:167458600-167469000	Weak transcription	Fetal Stomach	stomach
30	chr6:167460200-167464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:167460400-167469800	Weak transcription	Gastric	stomach
32	chr6:167460600-167463400	Weak transcription	Stomach Mucosa	stomach
33	chr6:167460800-167467400	Weak transcription	Adipose Nuclei	Adipose
34	chr6:167460800-167467800	Weak transcription	Fetal Intestine Small	intestine
35	chr6:167460800-167468800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:167461400-167468400	Weak transcription	Thymus	Thymus
37	chr6:167461800-167464200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:167461800-167465000	Enhancers	GM12878-XiMat	blood
39	chr6:167461800-167466200	Weak transcription	Primary T cells from cord blood	blood
40	chr6:167461800-167467600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr6:167461800-167468800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:167461800-167470000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:167462000-167463600	Weak transcription	Primary B cells from cord blood	blood
44	chr6:167462000-167463800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:167462000-167464600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:167462000-167466400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:167462000-167466400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:167462000-167466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:167462000-167467000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:167462000-167467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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