Variant report

Variant	rs1323522
Chromosome Location	chr9:100868147-100868148
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10984930	0.86[EUR][1000 genomes]
rs10984961	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10985045	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10985049	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10985050	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12554318	0.82[EUR][1000 genomes]
rs12554940	0.85[EUR][1000 genomes]
rs1323521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17806613	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2181583	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2417728	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs734769	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1040483	chr9:100835325-100868437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv614935	chr9:100861387-100876284	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100847400-100869400	Weak transcription	A549	lung
2	chr9:100850400-100880400	Weak transcription	HSMM	muscle
3	chr9:100850600-100875400	Weak transcription	NHLF	lung
4	chr9:100850600-100880600	Weak transcription	Fetal Lung	lung
5	chr9:100854600-100870800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:100854800-100870800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:100855000-100868200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:100857800-100869400	Weak transcription	Left Ventricle	heart
9	chr9:100858200-100869000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:100858400-100872000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:100858600-100880400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:100858600-100880400	Weak transcription	Brain Anterior Caudate	brain
13	chr9:100859200-100880600	Weak transcription	Gastric	stomach
14	chr9:100860000-100869000	Strong transcription	Fetal Intestine Small	intestine
15	chr9:100860200-100880800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:100861400-100871800	Enhancers	Primary B cells from peripheral blood	blood
17	chr9:100861400-100880600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:100862200-100872200	Enhancers	Primary B cells from cord blood	blood
19	chr9:100862200-100872400	Weak transcription	Esophagus	oesophagus
20	chr9:100862400-100869000	Weak transcription	K562	blood
21	chr9:100862400-100869600	Weak transcription	Adipose Nuclei	Adipose
22	chr9:100862400-100871800	Weak transcription	HMEC	breast
23	chr9:100862400-100880000	Weak transcription	Small Intestine	intestine
24	chr9:100862400-100880600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:100862600-100869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:100864600-100871000	Weak transcription	NHEK	skin
27	chr9:100864600-100880400	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:100864600-100880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:100864800-100869000	Weak transcription	Brain Germinal Matrix	brain
30	chr9:100864800-100869200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr9:100864800-100869600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:100864800-100871600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:100865000-100870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:100865000-100870800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:100865000-100871800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:100865000-100872800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr9:100865200-100868200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr9:100866200-100868600	Strong transcription	Liver	Liver
39	chr9:100866200-100869600	Genic enhancers	Thymus	Thymus
40	chr9:100866200-100870400	Strong transcription	HepG2	liver
41	chr9:100866200-100872800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:100866200-100872800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:100866200-100873000	Genic enhancers	Fetal Thymus	thymus
44	chr9:100866200-100874000	Strong transcription	Fetal Intestine Large	intestine
45	chr9:100866400-100868400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr9:100866400-100869600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr9:100866600-100869600	Genic enhancers	Primary T cells from cord blood	blood
48	chr9:100866600-100869800	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr9:100866600-100870400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:100866800-100868400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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