Variant report

Variant	rs4979325
Chromosome Location	chr9:116780314-116780315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116778931..116781819-chr9:116782880..116785170,2	MCF-7	breast:
2	chr9:116773678..116775995-chr9:116779298..116781749,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10739399	0.97[EUR][1000 genomes]
rs10759677	0.87[CEU][hapmap];0.95[EUR][1000 genomes]
rs10759678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10817553	0.95[EUR][1000 genomes]
rs10817557	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13297916	0.82[LWK][hapmap]
rs1835731	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1853546	0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1991706	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2116406	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2163575	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4497041	0.81[JPT][hapmap]
rs4979316	0.82[GIH][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs4979321	0.87[CEU][hapmap];0.95[GIH][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs4979323	0.91[CEU][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes]
rs4979324	0.87[CEU][hapmap];0.94[JPT][hapmap];0.80[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4979328	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7026668	0.87[CEU][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes]
rs7028504	0.95[EUR][1000 genomes]
rs7040742	1.00[CEU][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs7041487	0.87[CEU][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes]
rs7042081	0.97[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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv521361	chr9:116774010-116780992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116733400-116800200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:116736400-116783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:116756800-116783800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:116757000-116783400	Weak transcription	Small Intestine	intestine
5	chr9:116762200-116780400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:116764600-116797200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:116765000-116783200	Weak transcription	NHEK	skin
8	chr9:116765800-116784400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:116766000-116784800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:116766000-116792600	Weak transcription	Stomach Mucosa	stomach
11	chr9:116766000-116798000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:116766200-116799000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:116766600-116782400	Strong transcription	A549	lung
14	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:116767000-116780400	Weak transcription	Brain Angular Gyrus	brain
16	chr9:116767200-116785800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:116768400-116794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:116768800-116784800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr9:116769400-116790400	Weak transcription	Right Ventricle	heart
20	chr9:116773600-116809200	Weak transcription	Fetal Heart	heart
21	chr9:116774000-116780400	Weak transcription	Brain Substantia Nigra	brain
22	chr9:116774000-116791200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr9:116774000-116791200	Weak transcription	Fetal Brain Male	brain
24	chr9:116774200-116783800	Weak transcription	HMEC	breast
25	chr9:116774200-116798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr9:116774600-116790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:116775200-116783400	Weak transcription	NH-A	brain
28	chr9:116775400-116780400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:116775400-116784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:116775600-116783000	Strong transcription	Fetal Lung	lung
31	chr9:116776200-116789800	Strong transcription	HUVEC	blood vessel
32	chr9:116776400-116782400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:116776800-116781600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:116777000-116782000	Weak transcription	HSMM	muscle
35	chr9:116777400-116781200	Strong transcription	Osteobl	bone
36	chr9:116777800-116782200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:116777800-116785000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:116778000-116781200	Strong transcription	Fetal Muscle Leg	muscle
39	chr9:116778000-116781400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:116778000-116781800	Strong transcription	Fetal Stomach	stomach
41	chr9:116778000-116785200	Strong transcription	NHDF-Ad	bronchial
42	chr9:116778200-116781400	Strong transcription	Fetal Intestine Small	intestine
43	chr9:116778200-116781800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:116778400-116780600	Strong transcription	Ovary	ovary
45	chr9:116778400-116781000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:116778400-116781600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:116778400-116781600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:116778400-116781800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr9:116778400-116783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr9:116778400-116783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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