Variant report

Variant	rs1983815
Chromosome Location	chr9:100938110-100938111
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100920536..100923266-chr9:100936891..100938519,2	MCF-7	breast:
2	chr9:100879114..100881147-chr9:100936824..100939242,2	K562	blood:
3	chr9:100745048..100746983-chr9:100937845..100940681,2	MCF-7	breast:
4	chr9:100936160..100938989-chr9:100952590..100955051,2	K562	blood:

Variant related genes	Relation type
ENSG00000106789	Chromatin interaction
ENSG00000136938	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10491724	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs12552786	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16913411	0.82[ASN][1000 genomes]
rs16913573	0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs2231652	0.85[CHB][hapmap]
rs2231656	0.92[CHB][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3758263	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57830760	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7040921	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][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	chr9:100924600-100939000	Enhancers	Duodenum Mucosa	Duodenum
3	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
4	chr9:100932800-100951200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:100933400-100951400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:100933600-100942600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr9:100933800-100942400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr9:100933800-100950200	Weak transcription	Colonic Mucosa	Colon
9	chr9:100933800-100951400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:100934400-100954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr9:100935200-100947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:100935400-100938400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:100935400-100953000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:100935400-100953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:100935400-100953200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:100935800-100941400	Enhancers	Fetal Intestine Large	intestine
17	chr9:100935800-100944800	Weak transcription	Lung	lung
18	chr9:100936000-100938200	Weak transcription	Stomach Mucosa	stomach
19	chr9:100936000-100939000	Weak transcription	Liver	Liver
20	chr9:100936000-100941600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:100936000-100953000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:100936000-100953200	Weak transcription	Gastric	stomach
23	chr9:100936200-100940200	Enhancers	K562	blood
24	chr9:100936400-100939600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr9:100936800-100938400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:100937000-100939600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:100937000-100939600	Enhancers	Fetal Thymus	thymus
28	chr9:100937000-100948400	Weak transcription	Small Intestine	intestine
29	chr9:100937200-100938600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:100937400-100938200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:100937400-100939000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:100937400-100939400	Enhancers	Thymus	Thymus
33	chr9:100937400-100947000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:100937600-100941800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:100937800-100941200	Weak transcription	Esophagus	oesophagus
36	chr9:100937800-100941600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:100937800-100942400	Weak transcription	Primary B cells from cord blood	blood
38	chr9:100937800-100947400	Weak transcription	NHEK	skin
39	chr9:100937800-100951400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr9:100937800-100953200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:100938000-100938800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:100938000-100939000	Enhancers	HepG2	liver
43	chr9:100938000-100939200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:100938000-100940400	Enhancers	Fetal Intestine Small	intestine
45	chr9:100938000-100941400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr9:100938000-100941600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr9:100938000-100941600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr9:100938000-100941800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr9:100938000-100942400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr9:100938000-100943800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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