Variant report

Variant	rs34442130
Chromosome Location	chr3:46024529-46024530
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46023503..46025098-chr3:46030445..46033156,2	K562	blood:
2	chr3:46022722..46024858-chr3:46024939..46027896,2	K562	blood:
3	chr3:46021917..46024700-chr3:46027716..46030169,2	MCF-7	breast:
4	chr3:46015505..46018391-chr3:46024106..46026296,2	K562	blood:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:171)

rs_ID	r²[population]
rs12108042	0.82[EUR][1000 genomes]
rs13059238	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13060287	0.89[EUR][1000 genomes]
rs13063527	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13063635	0.90[AMR][1000 genomes]
rs13066062	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13066516	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13068410	0.82[EUR][1000 genomes]
rs13068570	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13069079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13069742	0.85[EUR][1000 genomes]
rs13071283	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13072267	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13074382	0.89[EUR][1000 genomes]
rs13075528	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13075758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078739	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13079869	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13081151	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13081213	0.89[EUR][1000 genomes]
rs13082697	0.89[EUR][1000 genomes]
rs13085367	0.90[AMR][1000 genomes]
rs13089554	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13089855	0.92[EUR][1000 genomes]
rs13090194	0.89[EUR][1000 genomes]
rs13091868	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13093179	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13094262	0.82[EUR][1000 genomes]
rs13095602	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13095717	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13096741	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13097556	0.89[EUR][1000 genomes]
rs13099120	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13433997	0.90[EUR][1000 genomes]
rs1491950	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1491951	0.85[EUR][1000 genomes]
rs17214952	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17215008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17215981	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17280623	0.90[AMR][1000 genomes];0.97[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];0.99[EUR][1000 genomes]
rs17714101	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17714228	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17764831	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17764980	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1994491	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1994492	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1994493	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2088690	0.89[EUR][1000 genomes]
rs2088692	0.89[EUR][1000 genomes]
rs2088693	0.82[EUR][1000 genomes]
rs2102055	0.89[EUR][1000 genomes]
rs2102056	0.85[EUR][1000 genomes]
rs2171531	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2230322	0.89[EUR][1000 genomes]
rs2373087	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs33910087	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34000569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34047915	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34068335	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs34093271	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34127208	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34168660	0.89[EUR][1000 genomes]
rs34283240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34324101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34339943	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34340587	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34381952	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34438204	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34452002	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34460587	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34492478	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34493660	0.92[EUR][1000 genomes]
rs34518147	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34562820	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34584867	0.89[EUR][1000 genomes]
rs34619093	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34679077	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34718164	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34754340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34766614	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34774687	0.89[EUR][1000 genomes]
rs34836513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34849862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34863575	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34867672	0.82[EUR][1000 genomes]
rs34901975	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34924300	0.80[EUR][1000 genomes]
rs35028116	0.82[EUR][1000 genomes]
rs35110864	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35159820	0.89[EUR][1000 genomes]
rs35161099	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35209528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35280891	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35334665	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35454877	0.89[EUR][1000 genomes]
rs35464221	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35477280	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs35501575	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35516580	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35525815	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35539222	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35581648	0.90[AMR][1000 genomes]
rs35669129	0.89[EUR][1000 genomes]
rs35751180	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35772789	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35814488	0.89[EUR][1000 genomes]
rs35827997	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35831747	0.94[EUR][1000 genomes]
rs35855315	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35883205	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35921206	0.89[EUR][1000 genomes]
rs35930050	0.89[EUR][1000 genomes]
rs36023124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36039366	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36040135	0.89[EUR][1000 genomes]
rs36057789	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36122610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3851346	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41289616	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41289622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4362758	0.89[EUR][1000 genomes]
rs4373103	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4388012	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4683166	0.82[EUR][1000 genomes]
rs55875328	0.92[EUR][1000 genomes]
rs55920693	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56332428	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60019065	0.89[EUR][1000 genomes]
rs61556067	0.92[EUR][1000 genomes]
rs61650989	0.92[EUR][1000 genomes]
rs67200151	0.92[EUR][1000 genomes]
rs6780028	0.89[EUR][1000 genomes]
rs6785091	0.96[EUR][1000 genomes]
rs6790866	0.89[EUR][1000 genomes]
rs6791016	0.89[EUR][1000 genomes]
rs67937868	0.92[EUR][1000 genomes]
rs68087193	0.87[EUR][1000 genomes]
rs71325091	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs71325092	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs71325095	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71325096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71325098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71325100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71325101	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71325102	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71327003	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71327006	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71327007	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71327009	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71327010	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71327014	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71327015	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71327017	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71327021	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71327023	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71327024	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71327025	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[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];0.94[EUR][1000 genomes]
rs7642229	0.80[EUR][1000 genomes]
rs7642320	0.82[EUR][1000 genomes]
rs7652478	0.82[EUR][1000 genomes]
rs876668	0.89[EUR][1000 genomes]
rs9824651	0.85[EUR][1000 genomes]
rs9825081	0.85[EUR][1000 genomes]
rs9845382	0.85[EUR][1000 genomes]
rs9877748	0.85[EUR][1000 genomes]

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	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	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
4	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
2	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:45996200-46025400	Strong transcription	Liver	Liver
11	chr3:46000000-46029600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:46002600-46025000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:46002600-46027200	Weak transcription	A549	lung
14	chr3:46008600-46026400	Strong transcription	Hela-S3	cervix
15	chr3:46009000-46027800	Weak transcription	Fetal Brain Male	brain
16	chr3:46010200-46027000	Weak transcription	Fetal Brain Female	brain
17	chr3:46010200-46029600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:46010200-46033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:46013000-46026200	Weak transcription	Brain Germinal Matrix	brain
20	chr3:46013600-46025000	Strong transcription	Fetal Intestine Small	intestine
21	chr3:46013600-46025400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr3:46013600-46025600	Strong transcription	Fetal Stomach	stomach
23	chr3:46013600-46034000	Genic enhancers	Fetal Thymus	thymus
24	chr3:46014000-46025800	Strong transcription	HepG2	liver
25	chr3:46014000-46026400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr3:46014200-46026000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:46015000-46025200	Strong transcription	Placenta	Placenta
28	chr3:46015400-46026400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:46015600-46024600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:46015600-46027200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:46015800-46026400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:46015800-46026800	Strong transcription	Brain Hippocampus Middle	brain
33	chr3:46015800-46027600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr3:46016000-46026600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr3:46016200-46027800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr3:46017600-46024800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr3:46017600-46026200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:46018000-46025800	Strong transcription	Lung	lung
39	chr3:46018800-46026800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr3:46019200-46026800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:46019400-46030000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:46019600-46026200	Strong transcription	Adipose Nuclei	Adipose
43	chr3:46019800-46025400	Strong transcription	Brain Anterior Caudate	brain
44	chr3:46020000-46034200	Genic enhancers	Dnd41	blood
45	chr3:46020400-46027200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:46020800-46027000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:46021000-46025400	Genic enhancers	Thymus	Thymus
48	chr3:46021000-46025600	Strong transcription	Fetal Lung	lung
49	chr3:46021400-46024800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:46021400-46026800	Strong transcription	Primary monocytes fromperipheralblood	blood

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