Variant report

Variant	rs34849862
Chromosome Location	chr3:46001367-46001368
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46000436..46002879-chr3:46005170..46007859,2	MCF-7	breast:
2	chr3:46000938..46003324-chr3:46007900..46010295,2	K562	blood:

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs13059238	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13060287	0.86[EUR][1000 genomes]
rs13063527	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13063635	0.90[AMR][1000 genomes]
rs13066062	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13066516	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs13068570	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13069079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13069742	0.82[EUR][1000 genomes]
rs13071283	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13072267	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13074382	0.86[EUR][1000 genomes]
rs13075528	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13075758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13078739	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13079869	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13081151	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13081213	0.86[EUR][1000 genomes]
rs13082697	0.86[EUR][1000 genomes]
rs13085367	0.90[AMR][1000 genomes]
rs13089554	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13089855	0.88[EUR][1000 genomes]
rs13090194	0.86[EUR][1000 genomes]
rs13091868	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13093179	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13095602	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13095717	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13096741	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13097556	0.86[EUR][1000 genomes]
rs13099120	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs13433997	0.87[EUR][1000 genomes]
rs1491950	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1491951	0.82[EUR][1000 genomes]
rs17214952	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17215008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17215981	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17280623	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17282175	0.86[AMR][1000 genomes]
rs17282238	0.84[AMR][1000 genomes]
rs17330872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17714101	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17714228	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17764831	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17764980	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1994491	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1994492	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1994493	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2088690	0.86[EUR][1000 genomes]
rs2088692	0.86[EUR][1000 genomes]
rs2102055	0.86[EUR][1000 genomes]
rs2102056	0.82[EUR][1000 genomes]
rs2171531	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2230322	0.86[EUR][1000 genomes]
rs2373087	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs33910087	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34000569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34047915	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34068335	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs34093271	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34127208	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34168660	0.86[EUR][1000 genomes]
rs34283240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34324101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34339943	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34340587	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34381952	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34438204	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34442130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34452002	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34460587	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34492478	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34493660	0.88[EUR][1000 genomes]
rs34518147	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34562820	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34584867	0.86[EUR][1000 genomes]
rs34619093	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34679077	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34718164	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34754340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34766614	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34774687	0.86[EUR][1000 genomes]
rs34836513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34863575	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34901975	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35110864	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35159820	0.86[EUR][1000 genomes]
rs35161099	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35209528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35280891	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35334665	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35454877	0.86[EUR][1000 genomes]
rs35464221	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs35477280	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs35501575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35516580	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35525815	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35539222	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35581648	0.90[AMR][1000 genomes]
rs35669129	0.86[EUR][1000 genomes]
rs35751180	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35772789	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35814488	0.86[EUR][1000 genomes]
rs35827997	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35831747	0.97[EUR][1000 genomes]
rs35855315	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35883205	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35921206	0.86[EUR][1000 genomes]
rs35930050	0.86[EUR][1000 genomes]
rs36023124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36039366	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36040135	0.86[EUR][1000 genomes]
rs36057789	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36122610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3851346	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41289616	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41289622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4362758	0.86[EUR][1000 genomes]
rs4373103	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4388012	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55875328	0.88[EUR][1000 genomes]
rs55920693	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56332428	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60019065	0.86[EUR][1000 genomes]
rs61556067	0.88[EUR][1000 genomes]
rs61650989	0.88[EUR][1000 genomes]
rs67200151	0.88[EUR][1000 genomes]
rs6780028	0.86[EUR][1000 genomes]
rs6782814	0.80[EUR][1000 genomes]
rs6785091	0.99[EUR][1000 genomes]
rs6790866	0.86[EUR][1000 genomes]
rs6791016	0.86[EUR][1000 genomes]
rs67937868	0.88[EUR][1000 genomes]
rs68087193	0.84[EUR][1000 genomes]
rs71325091	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs71325092	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs71325095	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71325096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71325098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71325100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71325101	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71325102	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71327003	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71327006	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71327007	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71327009	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71327010	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71327014	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327015	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327017	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327021	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327023	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327024	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327025	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327027	0.90[AMR][1000 genomes]
rs71615437	1.00[AFR][1000 genomes]
rs71615438	1.00[AFR][1000 genomes];1.00[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	chr3:45986400-46001400	Weak transcription	A549	lung
8	chr3:45986400-46006200	Strong transcription	Fetal Muscle Leg	muscle
9	chr3:45986400-46006800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr3:45986400-46007600	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:45986400-46012200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:45986600-46009000	Strong transcription	Primary B cells from cord blood	blood
14	chr3:45986600-46012000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:45986800-46012200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:45987200-46013600	Strong transcription	Primary hematopoietic stem cells	blood
18	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:45987600-46002000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:45987600-46007800	Strong transcription	K562	blood
22	chr3:45987800-46001400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:45987800-46012200	Strong transcription	HepG2	liver
24	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:45988000-46012000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:45988200-46009800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:45988200-46012000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:45988800-46011800	Strong transcription	Lung	lung
32	chr3:45989400-46013800	Strong transcription	Dnd41	blood
33	chr3:45990600-46017200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr3:45991200-46006800	Strong transcription	HSMMtube	muscle
35	chr3:45991200-46012000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:45991200-46017400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr3:45991400-46009800	Strong transcription	Aorta	Aorta
38	chr3:45991400-46009800	Strong transcription	NHLF	lung
39	chr3:45991600-46003200	Strong transcription	GM12878-XiMat	blood
40	chr3:45992400-46003800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:45992400-46004200	Strong transcription	Small Intestine	intestine
42	chr3:45992600-46013200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:45992600-46013600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:45992800-46006400	Strong transcription	Primary T cells from cord blood	blood
45	chr3:45993000-46013600	Strong transcription	Thymus	Thymus
46	chr3:45993200-46003800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:45993200-46007000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:45993400-46003400	Strong transcription	Fetal Thymus	thymus
49	chr3:45993600-46003400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:45994000-46002800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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