Variant report

Variant	rs73507193
Chromosome Location	chr8:6416510-6416511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6405224..6409336-chr8:6413306..6416659,4	K562	blood:
2	chr8:6285464..6288077-chr8:6414656..6417304,2	K562	blood:
3	chr8:6414044..6416927-chr8:6417837..6419892,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10481362	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2922865	0.84[EUR][1000 genomes]
rs2922888	0.84[EUR][1000 genomes]
rs6981002	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
3	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:6373600-6420200	Weak transcription	Esophagus	oesophagus
6	chr8:6386200-6417400	Weak transcription	Pancreas	Pancrea
7	chr8:6398200-6417200	Weak transcription	Brain Substantia Nigra	brain
8	chr8:6405400-6417000	Weak transcription	Brain Anterior Caudate	brain
9	chr8:6405400-6417200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:6405800-6416600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:6405800-6418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:6405800-6419400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:6405800-6419400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:6406000-6417400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:6406000-6417400	Weak transcription	Aorta	Aorta
16	chr8:6406200-6417200	Weak transcription	GM12878-XiMat	blood
17	chr8:6407800-6423800	Weak transcription	Spleen	Spleen
18	chr8:6408200-6416800	Weak transcription	Lung	lung
19	chr8:6408400-6416800	Weak transcription	Right Ventricle	heart
20	chr8:6408600-6416600	Weak transcription	Right Atrium	heart
21	chr8:6408600-6417200	Weak transcription	Ovary	ovary
22	chr8:6408800-6416800	Weak transcription	Psoas Muscle	Psoas
23	chr8:6408800-6418400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:6408800-6419400	Weak transcription	Fetal Stomach	stomach
25	chr8:6409000-6416600	Weak transcription	Fetal Lung	lung
26	chr8:6409000-6416600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:6410400-6417200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:6410400-6419000	Weak transcription	Primary T cells from cord blood	blood
29	chr8:6411000-6419800	Weak transcription	Colonic Mucosa	Colon
30	chr8:6411400-6416600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:6411600-6417200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:6412400-6417400	Weak transcription	Fetal Intestine Large	intestine
33	chr8:6412800-6416600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:6413400-6416600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:6413600-6419400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:6414200-6417200	Enhancers	Dnd41	blood
37	chr8:6414400-6416600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:6414400-6416600	Enhancers	NH-A	brain
39	chr8:6414600-6417200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:6414600-6417200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:6414600-6417600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:6414600-6417600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr8:6414600-6417600	Enhancers	NHEK	skin
44	chr8:6414800-6416600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:6414800-6416800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:6414800-6417600	Enhancers	HMEC	breast
47	chr8:6415000-6417400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:6415200-6417400	Weak transcription	Left Ventricle	heart
49	chr8:6415200-6424000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:6415400-6418000	Enhancers	Primary hematopoietic stem cells	blood

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