Variant report

Variant	rs7030169
Chromosome Location	chr9:110054068-110054069
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:110050203..110052215-chr9:110053888..110055858,2	K562	blood:
2	chr9:110052754..110054534-chr9:110055786..110058633,2	K562	blood:
3	chr9:110001230..110003494-chr9:110052662..110055320,2	MCF-7	breast:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10113916	0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs10119641	0.84[CHB][hapmap]
rs10481632	0.84[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10521083	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10732368	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs10739232	0.87[CHB][hapmap]
rs10739234	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10739236	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10739237	0.85[ASN][1000 genomes]
rs10739238	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10759219	0.83[CHB][hapmap]
rs10759222	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs10759223	0.94[ASN][1000 genomes]
rs10759225	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs10759226	0.91[ASN][1000 genomes]
rs10816475	0.95[CHB][hapmap]
rs10816477	0.84[CHB][hapmap]
rs10816483	0.82[ASN][1000 genomes]
rs10816485	0.84[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10816486	0.94[ASN][1000 genomes]
rs10816487	0.93[ASN][1000 genomes]
rs10816490	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10816491	0.81[EUR][1000 genomes]
rs10816492	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs10816493	0.96[ASN][1000 genomes]
rs10978767	0.89[CHB][hapmap]
rs10978769	0.83[CHB][hapmap]
rs10978770	0.83[CHB][hapmap]
rs10978775	0.84[CHB][hapmap]
rs10978791	0.84[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10978798	0.95[ASN][1000 genomes]
rs12345455	0.84[CHB][hapmap]
rs1323806	0.90[CHB][hapmap]
rs1323808	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1323809	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs1408135	0.95[CHB][hapmap]
rs1535765	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1535766	0.83[CHB][hapmap]
rs1805329	0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs1805332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1805334	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805335	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs1886134	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1969798	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1980725	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2147071	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2147072	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2417783	0.91[ASN][1000 genomes]
rs2417784	0.84[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2417785	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs28534368	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3818367	0.96[ASN][1000 genomes]
rs4278207	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625087	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4978404	0.81[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4978406	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4978764	0.95[CHB][hapmap]
rs4978844	0.96[ASN][1000 genomes]
rs4978849	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61701375	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs698475	0.84[CHB][hapmap];0.80[EUR][1000 genomes]
rs7019341	0.94[ASN][1000 genomes]
rs7025563	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7029997	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7030555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030631	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7031906	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7035611	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7035725	0.86[ASN][1000 genomes]
rs7038737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7039041	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7041137	0.83[CHB][hapmap]
rs7041497	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7043962	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7046950	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7852295	0.83[CHB][hapmap]
rs7856112	0.91[ASN][1000 genomes]
rs7856227	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7859769	0.91[ASN][1000 genomes]
rs7866312	0.83[CHB][hapmap]
rs7866353	0.84[CHB][hapmap]
rs7866797	0.83[CHB][hapmap]
rs7867544	0.89[CHB][hapmap]
rs817836	0.84[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs817839	0.85[AFR][1000 genomes]
rs817840	0.84[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs817841	0.84[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs817843	0.82[AFR][1000 genomes]
rs817844	0.85[AFR][1000 genomes]
rs817845	0.85[AFR][1000 genomes]
rs942291	0.84[CHB][hapmap]
rs942292	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs942293	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9632893	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9969728	0.84[CHB][hapmap]

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	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv508560	chr9:110006490-110060539	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv519266	chr9:110049477-110085255	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110047200-110054600	Weak transcription	Lung	lung
2	chr9:110047600-110067200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:110047800-110054200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr9:110048000-110056000	Weak transcription	Aorta	Aorta
5	chr9:110048000-110058400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:110048400-110058000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr9:110048600-110058000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr9:110048800-110055000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:110048800-110055200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr9:110048800-110055200	Weak transcription	HSMMtube	muscle
11	chr9:110048800-110056800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:110048800-110058600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr9:110048800-110059200	Enhancers	HepG2	liver
14	chr9:110048800-110061000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr9:110048800-110067800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:110048800-110069600	Weak transcription	Fetal Brain Male	brain
17	chr9:110049000-110055000	Weak transcription	Fetal Brain Female	brain
18	chr9:110049000-110055400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:110049000-110058800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:110049000-110061200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:110049000-110061400	Weak transcription	NH-A	brain
22	chr9:110049000-110063000	Enhancers	Liver	Liver
23	chr9:110049000-110063200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:110049000-110063200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:110049200-110054600	Weak transcription	NHEK	skin
26	chr9:110049200-110059200	Weak transcription	Fetal Intestine Small	intestine
27	chr9:110049200-110067000	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:110049400-110067800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr9:110049800-110058000	Weak transcription	Stomach Mucosa	stomach
30	chr9:110050200-110063200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:110050400-110055000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:110050600-110054800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr9:110051000-110054600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:110051200-110058400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:110051200-110066000	Weak transcription	Fetal Intestine Large	intestine
36	chr9:110051200-110067000	Weak transcription	Thymus	Thymus
37	chr9:110051600-110079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:110051800-110054600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr9:110051800-110054600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr9:110051800-110055400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:110051800-110057600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:110052000-110054200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:110052000-110055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:110052000-110055600	Enhancers	Colon Smooth Muscle	Colon
45	chr9:110052000-110056800	Weak transcription	Primary B cells from cord blood	blood
46	chr9:110052000-110066800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:110052200-110054400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:110052200-110061200	Weak transcription	Dnd41	blood
49	chr9:110052400-110054600	Weak transcription	Left Ventricle	heart
50	chr9:110052400-110055200	Weak transcription	Right Ventricle	heart

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