Variant report

Variant	rs17280623
Chromosome Location	chr3:46006341-46006342
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46002701..46006681-chr3:46007479..46011297,4	K562	blood:
2	chr3:46000436..46002879-chr3:46005170..46007859,2	MCF-7	breast:

Extended variants
information (count: 161 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs13059238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13060287	0.86[EUR][1000 genomes]
rs13063527	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13063635	0.81[AMR][1000 genomes]
rs13066062	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13066516	0.95[EUR][1000 genomes]
rs13068570	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13069079	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13069742	0.82[EUR][1000 genomes]
rs13071283	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13072267	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13074382	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13075528	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13075758	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13078739	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13079869	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13081151	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13081213	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs13082697	0.86[EUR][1000 genomes]
rs13085367	0.81[AMR][1000 genomes]
rs13089554	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13089855	0.89[EUR][1000 genomes]
rs13090194	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13091868	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13093179	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13095602	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13095717	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13096741	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13097556	0.86[EUR][1000 genomes]
rs13099120	0.95[EUR][1000 genomes]
rs13433997	0.89[EUR][1000 genomes]
rs1491950	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1491951	0.82[EUR][1000 genomes]
rs17214952	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17215008	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17215981	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17330872	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17714101	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs17714228	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs17764831	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs17764980	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs1994491	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs1994492	0.94[EUR][1000 genomes]
rs1994493	0.94[EUR][1000 genomes]
rs2088690	0.86[EUR][1000 genomes]
rs2088692	0.86[EUR][1000 genomes]
rs2102055	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2102056	0.82[EUR][1000 genomes]
rs2171531	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2230322	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2373087	0.95[EUR][1000 genomes]
rs33910087	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34000569	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34047915	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34068335	0.94[EUR][1000 genomes]
rs34093271	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34127208	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34168660	0.86[EUR][1000 genomes]
rs34283240	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34324101	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34339943	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34340587	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34381952	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34438204	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34442130	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34452002	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34460587	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34492478	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34493660	0.89[EUR][1000 genomes]
rs34518147	0.82[EUR][1000 genomes]
rs34562820	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34584867	0.86[EUR][1000 genomes]
rs34619093	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34679077	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34718164	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34754340	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34766614	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34774687	0.86[EUR][1000 genomes]
rs34836513	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34849862	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34863575	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34901975	0.80[EUR][1000 genomes]
rs35110864	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35159820	0.86[EUR][1000 genomes]
rs35161099	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35209528	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35280891	0.84[EUR][1000 genomes]
rs35334665	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35454877	0.86[EUR][1000 genomes]
rs35464221	0.81[AMR][1000 genomes]
rs35477280	0.95[EUR][1000 genomes]
rs35501575	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35516580	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35525815	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35539222	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35581648	0.81[AMR][1000 genomes]
rs35669129	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs35751180	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35772789	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35814488	0.86[EUR][1000 genomes]
rs35827997	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35831747	0.95[EUR][1000 genomes]
rs35855315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35883205	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35921206	0.86[EUR][1000 genomes]
rs35930050	0.86[EUR][1000 genomes]
rs36023124	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36039366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36040135	0.86[EUR][1000 genomes]
rs36057789	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36122610	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3851346	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41289616	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41289622	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4362758	0.86[EUR][1000 genomes]
rs4373103	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4388012	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55875328	0.89[EUR][1000 genomes]
rs55920693	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56332428	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60019065	0.86[EUR][1000 genomes]
rs61556067	0.89[EUR][1000 genomes]
rs61650989	0.89[EUR][1000 genomes]
rs67200151	0.89[EUR][1000 genomes]
rs6780028	0.86[EUR][1000 genomes]
rs6785091	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6790866	0.86[EUR][1000 genomes]
rs6791016	0.86[EUR][1000 genomes]
rs67937868	0.89[EUR][1000 genomes]
rs68087193	0.84[EUR][1000 genomes]
rs71325091	0.85[EUR][1000 genomes]
rs71325092	0.89[EUR][1000 genomes]
rs71325095	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71325096	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71325098	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71325100	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71325101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71325102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71327003	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71327006	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71327007	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71327009	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71327010	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71327014	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327015	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327017	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327021	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327023	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327024	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327025	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327027	0.81[AMR][1000 genomes]
rs71615438	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs876668	0.86[EUR][1000 genomes]
rs9824651	0.82[EUR][1000 genomes]
rs9825081	0.82[EUR][1000 genomes]
rs9845382	0.82[EUR][1000 genomes]
rs9877748	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45959400-46009800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:45980800-46013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
4	chr3:45983200-46012400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:45986200-46006800	Strong transcription	Fetal Intestine Small	intestine
6	chr3:45986200-46007600	Strong transcription	Fetal Stomach	stomach
7	chr3:45986400-46006800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr3:45986400-46007600	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:45986400-46012200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:45986600-46009000	Strong transcription	Primary B cells from cord blood	blood
12	chr3:45986600-46012000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:45986800-46012200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:45987200-46013600	Strong transcription	Primary hematopoietic stem cells	blood
16	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:45987600-46007800	Strong transcription	K562	blood
19	chr3:45987800-46012200	Strong transcription	HepG2	liver
20	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:45988000-46012000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:45988200-46009800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:45988200-46012000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:45988800-46011800	Strong transcription	Lung	lung
28	chr3:45989400-46013800	Strong transcription	Dnd41	blood
29	chr3:45990600-46017200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr3:45991200-46006800	Strong transcription	HSMMtube	muscle
31	chr3:45991200-46012000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:45991200-46017400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr3:45991400-46009800	Strong transcription	Aorta	Aorta
34	chr3:45991400-46009800	Strong transcription	NHLF	lung
35	chr3:45992600-46013200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:45992600-46013600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:45992800-46006400	Strong transcription	Primary T cells from cord blood	blood
38	chr3:45993000-46013600	Strong transcription	Thymus	Thymus
39	chr3:45993200-46007000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:45994200-46007600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr3:45994400-46007600	Strong transcription	Adipose Nuclei	Adipose
42	chr3:45994400-46008000	Strong transcription	Placenta	Placenta
43	chr3:45995000-46007400	Strong transcription	HUVEC	blood vessel
44	chr3:45995400-46008400	Weak transcription	Fetal Brain Male	brain
45	chr3:45996200-46025400	Strong transcription	Liver	Liver
46	chr3:45998400-46009600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:45998800-46008400	Strong transcription	Colonic Mucosa	Colon
48	chr3:45999000-46008000	Strong transcription	Gastric	stomach
49	chr3:45999200-46010600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:45999200-46011600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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