Variant report

Variant	rs73960840
Chromosome Location	chr2:97151703-97151704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97137689..97140404-chr2:97150128..97152232,2	K562	blood:

Extended variants
information (count: 15 )
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]
rs73958190	1.00[AFR][1000 genomes]
rs73958197	1.00[AFR][1000 genomes]
rs73958200	1.00[AFR][1000 genomes]
rs73958202	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
8	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97149600-97152400	Enhancers	Fetal Brain Male	brain
2	chr2:97150600-97151800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:97150800-97151800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:97150800-97152400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:97151000-97151800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:97151000-97151800	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr2:97151000-97152200	Enhancers	Spleen	Spleen
8	chr2:97151000-97152400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr2:97151000-97152400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr2:97151000-97152800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:97151000-97152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:97151200-97151800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:97151200-97151800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:97151200-97151800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:97151200-97152000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr2:97151200-97152000	Active TSS	Brain Anterior Caudate	brain
17	chr2:97151200-97152000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:97151200-97152200	Enhancers	Dnd41	blood
19	chr2:97151200-97152400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:97151200-97152600	Active TSS	Stomach Smooth Muscle	stomach
21	chr2:97151200-97152800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:97151200-97152800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr2:97151400-97151800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:97151400-97151800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr2:97151400-97151800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr2:97151400-97151800	Enhancers	Fetal Heart	heart
27	chr2:97151400-97151800	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr2:97151400-97151800	Enhancers	Small Intestine	intestine
29	chr2:97151400-97151800	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:97151400-97152000	Active TSS	Colonic Mucosa	Colon
31	chr2:97151400-97152200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:97151400-97152200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:97151400-97152200	Active TSS	Osteobl	bone
34	chr2:97151400-97152400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:97151400-97152400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:97151400-97152400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr2:97151400-97152600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr2:97151400-97152600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:97151400-97152600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:97151400-97152600	Active TSS	Right Atrium	heart
41	chr2:97151400-97152800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr2:97151600-97151800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:97151600-97151800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:97151600-97151800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:97151600-97151800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:97151600-97151800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:97151600-97151800	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr2:97151600-97151800	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr2:97151600-97151800	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr2:97151600-97151800	Flanking Active TSS	Fetal Brain Female	brain

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