Variant report

Variant	rs7597465
Chromosome Location	chr2:234328182-234328183
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	chr2:234322925..234327112-chr2:234328162..234331354,4	K562	blood:
2	chr2:234322925..234325669-chr2:234328162..234330584,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11675254	0.87[EUR][1000 genomes]
rs11681704	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11694406	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694654	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228939	0.85[EUR][1000 genomes]
rs3754595	0.85[EUR][1000 genomes]
rs3768799	0.82[EUR][1000 genomes]
rs3768801	0.85[EUR][1000 genomes]
rs3768802	0.87[EUR][1000 genomes]
rs3820744	0.88[EUR][1000 genomes]
rs56266844	0.90[EUR][1000 genomes]
rs56336977	0.90[EUR][1000 genomes]
rs6753242	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72980338	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72980361	0.90[EUR][1000 genomes]
rs72980376	0.85[EUR][1000 genomes]
rs7587876	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234308800-234328400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234322400-234328800	Weak transcription	Brain Germinal Matrix	brain
3	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:234323000-234328200	Weak transcription	Fetal Brain Female	brain
5	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
6	chr2:234323600-234328400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:234323600-234328800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:234323800-234334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:234324200-234328400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:234324400-234335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:234324800-234328400	Weak transcription	HSMMtube	muscle
13	chr2:234325600-234330600	Weak transcription	HepG2	liver
14	chr2:234326000-234329600	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:234326400-234328800	Enhancers	Spleen	Spleen
16	chr2:234326400-234331200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:234326400-234331600	Enhancers	Fetal Thymus	thymus
18	chr2:234326600-234328200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:234326600-234330600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr2:234326800-234328400	Flanking Active TSS	Stomach Mucosa	stomach
21	chr2:234326800-234328600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:234326800-234330800	Enhancers	Ovary	ovary
23	chr2:234326800-234330800	Enhancers	Small Intestine	intestine
24	chr2:234326800-234331800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr2:234327000-234328400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:234327000-234329400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr2:234327000-234331000	Enhancers	Placenta	Placenta
28	chr2:234327200-234328200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:234327200-234328200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:234327200-234328400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:234327200-234328400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:234327200-234328600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:234327200-234329000	Flanking Active TSS	Hela-S3	cervix
34	chr2:234327200-234329200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:234327200-234329200	Enhancers	NHLF	lung
36	chr2:234327200-234329400	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr2:234327200-234329400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr2:234327200-234329400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr2:234327200-234329400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr2:234327200-234329600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr2:234327200-234329800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:234327200-234330800	Enhancers	Fetal Lung	lung
43	chr2:234327200-234331200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr2:234327400-234328200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr2:234327400-234328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:234327400-234328200	Active TSS	Colonic Mucosa	Colon
47	chr2:234327400-234328400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:234327400-234328400	Flanking Active TSS	Osteobl	bone
49	chr2:234327400-234328600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:234327400-234328600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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