Variant report

Variant	rs73958190
Chromosome Location	chr2:96916957-96916958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:96916017..96917573-chr2:97000758..97002654,2	K562	blood:
2	chr2:96916178..96919434-chr2:96924086..96927437,4	K562	blood:
3	chr2:96900140..96903093-chr2:96915677..96917725,2	K562	blood:
4	chr2:96914494..96917084-chr2:96925071..96927865,2	MCF-7	breast:
5	chr2:96898081..96899906-chr2:96916186..96917874,2	K562	blood:
6	chr2:96916333..96921176-chr2:96924112..96927591,7	MCF-7	breast:
7	chr2:96916250..96917831-chr2:96918520..96920155,2	MCF-7	breast:
8	chr2:96880112..96882692-chr2:96915589..96917285,2	K562	blood:
9	chr2:96872741..96875281-chr2:96915493..96919582,4	MCF-7	breast:
10	chr2:96911551..96913086-chr2:96915396..96917094,2	K562	blood:
11	chr2:96906615..96908576-chr2:96914458..96917138,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000121152	Chromatin interaction
ENSG00000135956	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58926149	1.00[AFR][1000 genomes]
rs60893927	1.00[AFR][1000 genomes]
rs73958197	1.00[AFR][1000 genomes]
rs73958200	1.00[AFR][1000 genomes]
rs73958202	1.00[AFR][1000 genomes]
rs73960840	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh 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	162 gene(s)	inside rSNPs	diseases
7	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96876200-96917800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:96896200-96917600	Weak transcription	Pancreas	Pancrea
3	chr2:96899600-96918800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:96900000-96917800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:96900400-96917600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:96902600-96917600	Weak transcription	Fetal Lung	lung
7	chr2:96904200-96917600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:96905000-96917400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:96905200-96918200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:96905400-96917200	Weak transcription	Fetal Brain Female	brain
11	chr2:96905600-96917400	Weak transcription	Brain Germinal Matrix	brain
12	chr2:96905800-96917200	Weak transcription	HepG2	liver
13	chr2:96905800-96917800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:96905800-96918400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:96906800-96917600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:96907000-96917600	Weak transcription	Fetal Brain Male	brain
17	chr2:96907400-96917800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:96907400-96918800	Weak transcription	Small Intestine	intestine
19	chr2:96908000-96917600	Weak transcription	Esophagus	oesophagus
20	chr2:96908000-96917600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:96908200-96917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:96908200-96917600	Weak transcription	Colonic Mucosa	Colon
23	chr2:96908400-96917600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:96908600-96917200	Weak transcription	NHEK	skin
25	chr2:96908600-96917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:96908600-96917600	Weak transcription	Brain Anterior Caudate	brain
27	chr2:96908600-96917600	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:96908600-96917600	Weak transcription	HMEC	breast
29	chr2:96908600-96917800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:96909000-96917600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:96909400-96917600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:96911200-96917200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:96911600-96917600	Weak transcription	A549	lung
34	chr2:96912200-96922400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:96912600-96917600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:96913000-96917400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:96913000-96917600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:96913000-96917800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:96913000-96917800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:96913000-96918200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:96913200-96917400	Weak transcription	GM12878-XiMat	blood
42	chr2:96913200-96917600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:96913200-96917600	Weak transcription	K562	blood
44	chr2:96913600-96919400	Weak transcription	Hela-S3	cervix
45	chr2:96913800-96917800	Weak transcription	Stomach Mucosa	stomach
46	chr2:96914200-96917000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:96914400-96917600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:96914400-96917800	Enhancers	Left Ventricle	heart
49	chr2:96914400-96920600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:96914400-96924800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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