Variant report

Variant	rs7045584
Chromosome Location	chr9:100940368-100940369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100930731..100932939-chr9:100939830..100941779,2	K562	blood:
2	chr9:100881221..100884205-chr9:100940045..100942991,2	MCF-7	breast:
3	chr9:100745048..100746983-chr9:100937845..100940681,2	MCF-7	breast:
4	chr9:100939196..100942358-chr9:100952088..100954820,4	MCF-7	breast:
5	chr9:100940296..100942247-chr9:100983555..100986417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136938	Chromatin interaction
ENSG00000106785	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10818581	0.84[EUR][1000 genomes]
rs10985337	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7035365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72757946	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv893613	chr9:100885779-100943397	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100920400-100942200	Weak transcription	Primary T cells from cord blood	blood
2	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
3	chr9:100932800-100951200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr9:100933400-100951400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr9:100933600-100942600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr9:100933800-100942400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr9:100933800-100950200	Weak transcription	Colonic Mucosa	Colon
8	chr9:100933800-100951400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr9:100934400-100954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr9:100935200-100947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:100935400-100953000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:100935400-100953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:100935400-100953200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:100935800-100941400	Enhancers	Fetal Intestine Large	intestine
15	chr9:100935800-100944800	Weak transcription	Lung	lung
16	chr9:100936000-100941600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:100936000-100953000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:100936000-100953200	Weak transcription	Gastric	stomach
19	chr9:100937000-100948400	Weak transcription	Small Intestine	intestine
20	chr9:100937400-100947000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:100937600-100941800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:100937800-100941200	Weak transcription	Esophagus	oesophagus
23	chr9:100937800-100941600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:100937800-100942400	Weak transcription	Primary B cells from cord blood	blood
25	chr9:100937800-100947400	Weak transcription	NHEK	skin
26	chr9:100937800-100951400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:100937800-100953200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr9:100938000-100940400	Enhancers	Fetal Intestine Small	intestine
29	chr9:100938000-100941400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr9:100938000-100941600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr9:100938000-100941600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:100938000-100941800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr9:100938000-100942400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:100938000-100943800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:100938000-100943800	Weak transcription	Spleen	Spleen
36	chr9:100938000-100945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:100938000-100949800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:100938000-100952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:100938000-100953000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr9:100938400-100940600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:100938600-100942600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:100939200-100940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:100939400-100947400	Weak transcription	Thymus	Thymus
44	chr9:100939600-100940800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr9:100939600-100941000	Weak transcription	Fetal Thymus	thymus
46	chr9:100939600-100941200	Enhancers	HepG2	liver
47	chr9:100939600-100944600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr9:100939600-100945800	Enhancers	Duodenum Mucosa	Duodenum
49	chr9:100939800-100942400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr9:100939800-100942400	Weak transcription	Rectal Mucosa Donor 31	rectum

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