Variant report

Variant	rs55837830
Chromosome Location	chr16:70742688-70742689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70730415..70732560-chr16:70741033..70742955,2	K562	blood:
2	chr16:70740784..70746452-chr16:70747278..70752169,9	K562	blood:
3	chr16:70741298..70744260-chr16:70764009..70765549,2	MCF-7	breast:
4	chr16:70741732..70744635-chr16:70754684..70756403,2	K562	blood:
5	chr16:70737871..70744107-chr16:70778676..70782524,8	MCF-7	breast:
6	chr16:70742153..70743697-chr16:71411960..71414296,2	K562	blood:
7	chr16:70737857..70741498-chr16:70742534..70745125,3	K562	blood:

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction
ENSG00000260156	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11075781	0.82[EUR][1000 genomes]
rs11649476	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12444172	0.81[AFR][1000 genomes]
rs1551526	0.91[ASN][1000 genomes]
rs17307464	0.87[ASN][1000 genomes]
rs4985417	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4985562	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs55996451	0.87[ASN][1000 genomes]
rs7201952	0.90[AFR][1000 genomes]
rs936303	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
7	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	19 gene(s)	inside rSNPs	diseases
8	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
2	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
3	chr16:70731400-70755000	Weak transcription	Small Intestine	intestine
4	chr16:70732000-70746600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:70732800-70744400	Enhancers	Fetal Muscle Trunk	muscle
6	chr16:70732800-70745000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:70732800-70749600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:70733200-70759400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:70733400-70743600	Enhancers	Placenta	Placenta
10	chr16:70733400-70754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:70733800-70743400	Enhancers	Fetal Thymus	thymus
12	chr16:70733800-70744600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:70733800-70753400	Weak transcription	Dnd41	blood
14	chr16:70734600-70743200	Enhancers	HSMMtube	muscle
15	chr16:70734600-70751200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr16:70735200-70743600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:70735600-70744600	Enhancers	HSMM	muscle
18	chr16:70735800-70744400	Enhancers	Thymus	Thymus
19	chr16:70736000-70743600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:70737000-70753800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr16:70737200-70743600	Enhancers	Rectal Smooth Muscle	rectum
22	chr16:70737800-70745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr16:70738000-70746400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:70738000-70747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:70738000-70748400	Weak transcription	Psoas Muscle	Psoas
26	chr16:70738400-70748400	Weak transcription	Pancreas	Pancrea
27	chr16:70738600-70745000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:70739200-70743800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr16:70740000-70743400	Weak transcription	HepG2	liver
30	chr16:70740000-70745800	Weak transcription	Primary T cells from cord blood	blood
31	chr16:70740400-70744000	Enhancers	Fetal Muscle Leg	muscle
32	chr16:70740800-70744400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr16:70740800-70745200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr16:70741000-70752800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr16:70741200-70742800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr16:70741200-70744000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:70741200-70744400	Enhancers	HUVEC	blood vessel
38	chr16:70741400-70743000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:70741400-70743400	Weak transcription	Right Ventricle	heart
40	chr16:70741400-70745000	Weak transcription	Fetal Heart	heart
41	chr16:70741400-70745200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr16:70741400-70746600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr16:70741400-70753400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr16:70741600-70742800	Weak transcription	Adipose Nuclei	Adipose
45	chr16:70741600-70743000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr16:70741600-70743000	Enhancers	A549	lung
47	chr16:70741600-70744000	Weak transcription	Aorta	Aorta
48	chr16:70741600-70744000	Enhancers	Colon Smooth Muscle	Colon
49	chr16:70741600-70744000	Weak transcription	Fetal Lung	lung
50	chr16:70741600-70744400	Enhancers	Muscle Satellite Cultured Cells	--

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