Variant report

Variant	rs10078011
Chromosome Location	chr5:41795432-41795433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:41795237-41795513	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr5:41794279-41795454	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:41795218-41795532	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:41795358-41795460	ProgFib	skin:	n/a	n/a
5	JUND	chr5:41794052-41795690	SK-N-SH	brain:	n/a	chr5:41794722-41794733
6	EP300	chr5:41792262-41795616	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
OXCT1	TF binding region

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10035434	0.95[EUR][1000 genomes]
rs10040757	0.95[EUR][1000 genomes]
rs10043326	0.95[EUR][1000 genomes]
rs10043371	0.95[EUR][1000 genomes]
rs10045473	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10051322	0.95[EUR][1000 genomes]
rs10052226	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10053522	0.95[EUR][1000 genomes]
rs10054130	0.95[EUR][1000 genomes]
rs10057546	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10057587	0.95[EUR][1000 genomes]
rs10057645	0.95[EUR][1000 genomes]
rs10059424	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10060170	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10062703	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10064298	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10064380	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10065016	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10065335	0.95[EUR][1000 genomes]
rs10069638	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10070201	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10075429	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10076689	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10077481	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10079651	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1027348	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10472357	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10472359	0.82[EUR][1000 genomes]
rs10473252	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10473255	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11738956	1.00[EUR][1000 genomes]
rs11741731	1.00[CEU][hapmap]
rs11744826	0.92[EUR][1000 genomes]
rs11745460	0.95[EUR][1000 genomes]
rs11745530	0.95[EUR][1000 genomes]
rs11746530	0.95[EUR][1000 genomes]
rs11747648	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11747941	0.92[EUR][1000 genomes]
rs11748575	1.00[CEU][hapmap]
rs11748578	1.00[CEU][hapmap]
rs11748933	0.95[EUR][1000 genomes]
rs12109887	0.92[EUR][1000 genomes]
rs13353950	1.00[CEU][hapmap]
rs13355194	0.95[EUR][1000 genomes]
rs13357951	0.95[EUR][1000 genomes]
rs13357980	1.00[CEU][hapmap]
rs13358459	0.95[EUR][1000 genomes]
rs13436920	1.00[CEU][hapmap]
rs1423242	0.92[EUR][1000 genomes]
rs1423243	0.92[EUR][1000 genomes]
rs1567323	0.95[EUR][1000 genomes]
rs167583	0.92[EUR][1000 genomes]
rs16872052	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs170299	0.92[EUR][1000 genomes]
rs17339188	0.95[EUR][1000 genomes]
rs188818	0.92[EUR][1000 genomes]
rs222224	0.92[EUR][1000 genomes]
rs2231910	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2453241	0.92[EUR][1000 genomes]
rs28647448	0.95[EUR][1000 genomes]
rs316710	0.88[EUR][1000 genomes]
rs316711	0.92[EUR][1000 genomes]
rs316712	0.92[EUR][1000 genomes]
rs316713	0.92[EUR][1000 genomes]
rs316714	0.92[EUR][1000 genomes]
rs316715	0.92[EUR][1000 genomes]
rs316729	0.92[EUR][1000 genomes]
rs316731	0.92[EUR][1000 genomes]
rs316732	0.92[EUR][1000 genomes]
rs316733	0.92[EUR][1000 genomes]
rs316734	0.92[EUR][1000 genomes]
rs316743	0.92[EUR][1000 genomes]
rs316746	0.92[EUR][1000 genomes]
rs316747	0.92[EUR][1000 genomes]
rs316748	0.92[EUR][1000 genomes]
rs316749	0.92[EUR][1000 genomes]
rs316750	0.92[EUR][1000 genomes]
rs316752	0.92[EUR][1000 genomes]
rs316754	0.92[EUR][1000 genomes]
rs316756	0.92[EUR][1000 genomes]
rs316757	0.92[EUR][1000 genomes]
rs316758	0.92[EUR][1000 genomes]
rs34493032	0.95[EUR][1000 genomes]
rs35890705	0.95[EUR][1000 genomes]
rs4957178	0.95[EUR][1000 genomes]
rs4957180	0.95[EUR][1000 genomes]
rs4957434	1.00[CEU][hapmap]
rs4957436	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4957437	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4957438	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs57944767	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs582920	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs583090	0.92[EUR][1000 genomes]
rs584067	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs590851	0.95[EUR][1000 genomes]
rs591384	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs602274	0.95[EUR][1000 genomes]
rs605064	0.90[EUR][1000 genomes]
rs607620	0.92[EUR][1000 genomes]
rs609410	0.92[EUR][1000 genomes]
rs61058110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs614952	0.92[EUR][1000 genomes]
rs621944	0.92[EUR][1000 genomes]
rs627476	0.92[EUR][1000 genomes]
rs641270	0.92[EUR][1000 genomes]
rs654400	0.92[EUR][1000 genomes]
rs67041756	0.90[EUR][1000 genomes]
rs67152480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs675785	0.92[EUR][1000 genomes]
rs675812	0.92[EUR][1000 genomes]
rs678061	0.97[EUR][1000 genomes]
rs679399	0.92[EUR][1000 genomes]
rs72746926	1.00[EUR][1000 genomes]
rs72746928	1.00[EUR][1000 genomes]
rs72746930	1.00[EUR][1000 genomes]
rs72746932	1.00[EUR][1000 genomes]
rs72746933	0.97[EUR][1000 genomes]
rs72746952	1.00[EUR][1000 genomes]
rs72746962	0.95[EUR][1000 genomes]
rs72746966	1.00[EUR][1000 genomes]
rs72746968	1.00[EUR][1000 genomes]
rs72746975	1.00[EUR][1000 genomes]
rs72746983	0.90[EUR][1000 genomes]
rs72746985	0.95[EUR][1000 genomes]
rs72746995	0.95[EUR][1000 genomes]
rs72746996	0.90[EUR][1000 genomes]
rs72746997	0.90[EUR][1000 genomes]
rs72746999	0.95[EUR][1000 genomes]
rs72747000	0.95[EUR][1000 genomes]
rs72747001	0.95[EUR][1000 genomes]
rs72747002	0.95[EUR][1000 genomes]
rs72748607	0.95[EUR][1000 genomes]
rs72748608	0.95[EUR][1000 genomes]
rs72748609	0.95[EUR][1000 genomes]
rs72748611	0.95[EUR][1000 genomes]
rs72748613	0.95[EUR][1000 genomes]
rs72748614	0.95[EUR][1000 genomes]
rs72748616	0.95[EUR][1000 genomes]
rs72748619	0.95[EUR][1000 genomes]
rs72748620	0.95[EUR][1000 genomes]
rs72761834	0.92[EUR][1000 genomes]
rs7341062	0.95[EUR][1000 genomes]
rs7706652	0.92[EUR][1000 genomes]
rs7712106	0.95[EUR][1000 genomes]
rs7723992	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9292826	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292828	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292832	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9885033	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9885117	1.00[CEU][hapmap];0.95[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	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41731400-41800400	Weak transcription	Small Intestine	intestine
2	chr5:41735800-41800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:41739400-41799600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:41749200-41797800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:41756200-41813800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:41759800-41800400	Weak transcription	Esophagus	oesophagus
7	chr5:41761200-41798400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:41761600-41804600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:41762000-41799600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:41776000-41798200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:41778200-41838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:41780000-41800200	Weak transcription	Fetal Intestine Large	intestine
13	chr5:41784800-41796200	Weak transcription	K562	blood
14	chr5:41785800-41800000	Weak transcription	Fetal Brain Male	brain
15	chr5:41788600-41800000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:41789600-41808200	Weak transcription	Fetal Intestine Small	intestine
17	chr5:41790200-41801400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:41790200-41801600	Strong transcription	Primary T cells from cord blood	blood
19	chr5:41790400-41814000	Weak transcription	Psoas Muscle	Psoas
20	chr5:41791000-41801200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:41791600-41807600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr5:41792200-41795600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:41792200-41801000	Strong transcription	Primary B cells from cord blood	blood
24	chr5:41792200-41801400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:41792400-41795600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:41792400-41795600	Enhancers	Fetal Stomach	stomach
27	chr5:41792400-41795800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:41792400-41796800	Strong transcription	Dnd41	blood
29	chr5:41792400-41799000	Strong transcription	Fetal Thymus	thymus
30	chr5:41792600-41795800	Enhancers	Fetal Lung	lung
31	chr5:41792600-41798800	Strong transcription	GM12878-XiMat	blood
32	chr5:41792600-41800400	Weak transcription	Gastric	stomach
33	chr5:41792800-41796600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:41792800-41796600	Enhancers	NHDF-Ad	bronchial
35	chr5:41793000-41795600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:41793000-41796600	Enhancers	NHLF	lung
37	chr5:41793000-41800200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:41793200-41796000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:41793200-41796600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:41793200-41796600	Enhancers	Fetal Heart	heart
41	chr5:41793200-41797200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:41793200-41797200	Enhancers	NHEK	skin
43	chr5:41793200-41797200	Enhancers	Osteobl	bone
44	chr5:41793400-41795600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:41793400-41800400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:41793400-41801200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr5:41793400-41810400	Weak transcription	Spleen	Spleen
48	chr5:41793600-41796600	Enhancers	HMEC	breast
49	chr5:41793800-41795600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:41793800-41795600	Enhancers	Fetal Muscle Leg	muscle

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