Variant report

Variant	rs356125
Chromosome Location	chr9:97572244-97572245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:97572199-97572249	NHBE	bronchial:	n/a
2	chr9:97572199-97572249	NT2-D1	testis:	n/a
3	chr9:97572199-97572249	BJ	skin:	n/a
4	chr9:97572199-97572249	Hela-S3	cervix:	n/a
5	chr9:97572199-97572249	HPAEpiC	pulmonary alveolar:	n/a
6	chr9:97572199-97572249	ECC-1	luminal epithelium:	n/a
7	chr9:97572199-97572249	RPTEC	kidney:	n/a
8	chr9:97572199-97572249	MCF10A-Er-Src	breast:	n/a
9	chr9:97572199-97572249	Caco-2	colon:	n/a
10	chr9:97572199-97572249	AG04449	skin:	fetal
11	chr9:97572199-97572249	AG10803	skin:	n/a
12	chr9:97572199-97572249	HIPEpiC	eye:	n/a
13	chr9:97572199-97572249	PrEC	prostate:	n/a
14	chr9:97572199-97572249	ovcar-3	ovarian:	n/a
15	chr9:97572199-97572249	ProgFib	skin:	n/a
16	chr9:97572199-97572249	HL-60	blood:	n/a
17	chr9:97572199-97572249	GM12878	blood:	n/a
18	chr9:97572199-97572249	LNCaP	prostate:	n/a
19	chr9:97572199-97572249	H1-hESC	embryonic stem cell:	embryo
20	chr9:97572199-97572249	HCPEpiC	choroid plexus:	n/a
21	chr9:97572199-97572249	MCF-7	breast:	n/a
22	chr9:97572199-97572249	SK-N-SH	brain:	n/a
23	chr9:97572199-97572249	HCT-116	colon:	n/a
24	chr9:97572199-97572249	AG09319	gingival:	n/a
25	chr9:97572199-97572249	SK-N-SH_RA	brain:	n/a
26	chr9:97572199-97572249	SKMC	muscle:	n/a
27	chr9:97572199-97572249	A549	lung:	n/a
28	chr9:97572199-97572249	GM12892	blood:	n/a
29	chr9:97572199-97572249	Hepatocyte	liver:	n/a
30	chr9:97572199-97572249	HEEpiC	esophagus:	n/a
31	chr9:97572199-97572249	K562	blood:	n/a
32	chr9:97572199-97572249	PANC-1	pancreas:	n/a
33	chr9:97572199-97572249	GM06990	blood:	n/a
34	chr9:97572199-97572249	T-47D	breast:	n/a
35	chr9:97572199-97572249	HMEC	breast:	n/a
36	chr9:97572199-97572249	U87	brain:	n/a
37	chr9:97572199-97572249	PFSK-1	brain:	n/a
38	chr9:97572199-97572249	IMR90	lung:	fetal
39	chr9:97572199-97572249	NHDF-neo	bronchial:	n/a
40	chr9:97572199-97572249	HRPEpiC	eye:	n/a
41	chr9:97572199-97572249	CMK	blood:	n/a
42	chr9:97572199-97572249	BE2_C	brain:	n/a
43	chr9:97572199-97572249	NH-A	brain:	n/a
44	chr9:97572199-97572249	HepG2	liver:	n/a
45	chr9:97572199-97572249	HAEpiC	amniotic membrane:	n/a
46	chr9:97572199-97572249	HRCEpiC	kidney:	n/a
47	chr9:97572199-97572249	AoSMC	blood vessel:	n/a
48	chr9:97572199-97572249	GM19239	blood:	n/a
49	chr9:97572199-97572249	NB4	blood:	n/a
50	chr9:97572199-97572249	HRE	kidney:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
2	chr9:97572097..97590438-chr9:97672990..97690806,63	MCF-7	breast:

No data

Variant related genes	Relation type
MIR2278	CpG island
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10217441	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs10732407	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs10733756	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10739988	0.85[EUR][1000 genomes]
rs10739990	0.85[EUR][1000 genomes]
rs10761360	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10761362	1.00[CHB][hapmap]
rs10761363	0.85[EUR][1000 genomes]
rs10821407	0.82[EUR][1000 genomes]
rs10821411	0.85[EUR][1000 genomes]
rs10993386	0.85[EUR][1000 genomes]
rs12553916	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1530331	0.87[EUR][1000 genomes]
rs1542108	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs17355875	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs191654	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2165715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs242260	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2584805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675168	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs356128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356136	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs356139	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356147	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356149	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs365465	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367319	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3910730	0.82[EUR][1000 genomes]
rs397783	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs397806	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs422502	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4332191	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs438742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448899	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs456276	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs457795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612413	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4743968	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4743970	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4743972	0.82[EUR][1000 genomes]
rs4743973	0.82[EUR][1000 genomes]
rs4744382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4744387	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4744388	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs555799	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198429	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs562605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317174	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58281499	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61086657	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6479569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479574	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6479575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6479576	0.87[EUR][1000 genomes]
rs6479577	0.92[EUR][1000 genomes]
rs6479578	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs6479579	0.85[EUR][1000 genomes]
rs6479581	0.85[EUR][1000 genomes]
rs6479582	0.85[EUR][1000 genomes]
rs6479583	0.85[EUR][1000 genomes]
rs66495734	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66710673	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67208365	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68090960	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68091393	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7019602	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs7022963	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs7025100	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs7025934	0.87[EUR][1000 genomes]
rs7026714	0.82[EUR][1000 genomes]
rs7035166	0.87[EUR][1000 genomes]
rs7038519	0.87[EUR][1000 genomes]
rs7038891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7044371	0.85[EUR][1000 genomes]
rs7047478	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72747019	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7341710	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7855781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867856	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7870679	0.87[EUR][1000 genomes]
rs894425	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs894426	0.85[EUR][1000 genomes]
rs894428	0.87[EUR][1000 genomes]
rs9409589	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409805	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 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	chr9:97556800-97575800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:97562000-97572800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr9:97563400-97584200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:97563600-97594400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr9:97563800-97573400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:97563800-97573800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:97563800-97574600	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:97563800-97579600	Weak transcription	Gastric	stomach
9	chr9:97563800-97584200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:97564000-97574400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:97564000-97574400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:97564000-97574600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:97564000-97580000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr9:97564000-97589200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr9:97564200-97580400	Weak transcription	K562	blood
16	chr9:97565200-97587000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:97565400-97584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:97567400-97593400	Weak transcription	Thymus	Thymus
19	chr9:97567600-97579400	Weak transcription	Pancreas	Pancrea
20	chr9:97568200-97575800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:97568600-97581400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:97568600-97589000	Weak transcription	Liver	Liver
23	chr9:97568800-97573800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:97568800-97574400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:97568800-97581400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:97568800-97581400	Weak transcription	Fetal Brain Male	brain
27	chr9:97568800-97586800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:97569000-97572400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:97569000-97574400	Weak transcription	NHLF	lung
30	chr9:97569000-97575400	Weak transcription	Fetal Brain Female	brain
31	chr9:97569000-97580200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:97569000-97583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:97569000-97584200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:97569000-97584200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:97569200-97572400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:97569200-97572600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr9:97569200-97574200	Strong transcription	Fetal Intestine Large	intestine
38	chr9:97569200-97574400	Strong transcription	Primary T cells from cord blood	blood
39	chr9:97569200-97581200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:97569200-97586400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr9:97569200-97589000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr9:97569400-97572600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr9:97569400-97574200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:97569400-97574200	Weak transcription	NHEK	skin
45	chr9:97569400-97574600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:97569400-97574600	Weak transcription	NHDF-Ad	bronchial
47	chr9:97569400-97579400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr9:97569400-97579400	Weak transcription	Ovary	ovary
49	chr9:97569400-97581200	Weak transcription	Stomach Mucosa	stomach
50	chr9:97569400-97581400	Weak transcription	Small Intestine	intestine

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