Variant report

Variant	rs2511076
Chromosome Location	chr11:71783827-71783828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:71783097-71783853	HCT-116	colon:	n/a	n/a
2	SP1	chr11:71783198-71783928	HCT-116	colon:	n/a	n/a
3	TEAD4	chr11:71783254-71783836	SK-N-SH	brain:	n/a	n/a
4	JUND	chr11:71783230-71783882	HCT-116	colon:	n/a	n/a
5	TCF12	chr11:71783015-71783882	SK-N-SH	brain:	n/a	n/a
6	TCF7L2	chr11:71783204-71783829	Hela-S3	cervix:	n/a	chr11:71783528-71783542 chr11:71783531-71783540
7	SP1	chr11:71783104-71783991	HCT-116	colon:	n/a	n/a
8	POLR2A	chr11:71782972-71783831	HUVEC	blood vessel:	n/a	n/a
9	MAX	chr11:71783224-71783852	ECC-1	luminal epithelium:	n/a	n/a
10	CBX3	chr11:71783110-71783893	HCT-116	colon:	n/a	n/a
11	CEBPB	chr11:71783105-71783915	HCT-116	colon:	n/a	n/a
12	FOSL1	chr11:71783129-71783869	HCT-116	colon:	n/a	n/a
13	FOSL2	chr11:71783210-71783844	SK-N-SH	brain:	n/a	n/a
14	MAX	chr11:71783040-71783892	HCT-116	colon:	n/a	n/a
15	POLR2A	chr11:71783125-71783833	HUVEC	blood vessel:	n/a	n/a
16	NFIC	chr11:71783180-71783914	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
2	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
3	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:
4	chr11:71765074..71767512-chr11:71783461..71785130,2	MCF-7	breast:
5	chr11:71780985..71784804-chr11:71822969..71825529,4	K562	blood:
6	chr11:71783566..71785134-chr11:71785385..71786915,2	K562	blood:

No data

Variant related genes	Relation type
NUMA1	TF binding region
MIR3165	TF binding region
ENSG00000110200	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000184154	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10128658	0.87[ASN][1000 genomes]
rs10736786	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10751193	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10793016	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898814	0.87[ASN][1000 genomes]
rs10898817	0.81[ASN][1000 genomes]
rs11235440	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12272213	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12283462	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12293885	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1573500	0.85[ASN][1000 genomes]
rs1573502	0.88[ASN][1000 genomes]
rs17161966	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17161980	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17161991	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1791544	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1806778	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1892919	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1894003	0.88[ASN][1000 genomes]
rs1939242	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1939243	0.87[ASN][1000 genomes]
rs1939245	0.87[ASN][1000 genomes]
rs1939247	0.87[ASN][1000 genomes]
rs2250866	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2298456	0.85[ASN][1000 genomes]
rs2511074	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2511075	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511078	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511079	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511114	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511116	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511121	0.80[ASN][1000 genomes]
rs2511122	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2845857	0.82[EUR][1000 genomes]
rs28504107	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3018301	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018304	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3018308	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3133230	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133233	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750908	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3793938	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4338555	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs482013	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs493065	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4943821	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944258	0.87[ASN][1000 genomes]
rs4944259	0.86[ASN][1000 genomes]
rs4945426	0.88[ASN][1000 genomes]
rs4945434	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945435	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs495567	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs510925	0.91[ASN][1000 genomes]
rs517837	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs541022	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs542752	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs547208	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs548961	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs552966	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs560777	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57025151	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs585228	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58991229	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs597513	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs598835	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs607446	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs610004	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs610041	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs615000	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs627329	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs636946	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs642573	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs642618	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656640	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592458	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6592459	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs659513	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670802	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs671681	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs673478	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs675185	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676721	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs677279	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs678193	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679926	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7101701	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7113549	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7116188	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7116495	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7123102	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7124000	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7126838	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7127865	0.88[ASN][1000 genomes]
rs73539529	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73539532	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73543609	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73543633	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7480015	0.84[ASN][1000 genomes]
rs7930142	0.87[ASN][1000 genomes]
rs7930544	0.87[ASN][1000 genomes]
rs7930721	0.87[ASN][1000 genomes]
rs7930722	0.87[ASN][1000 genomes]
rs7937582	0.87[ASN][1000 genomes]
rs949325	0.85[ASN][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2511076	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
2	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
4	chr11:71778400-71789800	Weak transcription	Brain Germinal Matrix	brain
5	chr11:71779200-71784600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:71779200-71786200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:71779400-71784400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:71779400-71790200	Weak transcription	Thymus	Thymus
9	chr11:71780200-71784800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:71780200-71785000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:71780400-71784600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:71780600-71784400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:71780600-71790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:71781000-71784400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:71781000-71784600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:71781000-71784600	Enhancers	NHDF-Ad	bronchial
17	chr11:71781000-71790400	Weak transcription	Primary T cells from cord blood	blood
18	chr11:71781200-71789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:71781600-71784000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:71781600-71784000	Enhancers	A549	lung
21	chr11:71781600-71789400	Weak transcription	Liver	Liver
22	chr11:71781600-71789600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:71781800-71789800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:71781800-71791000	Weak transcription	Aorta	Aorta
25	chr11:71782000-71784000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:71782000-71786200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:71782000-71786200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:71782000-71789800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:71782000-71789800	Weak transcription	Stomach Mucosa	stomach
30	chr11:71782000-71790200	Weak transcription	Ovary	ovary
31	chr11:71782200-71786200	Weak transcription	K562	blood
32	chr11:71782400-71784000	Enhancers	HSMMtube	muscle
33	chr11:71782800-71784000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:71782800-71784000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:71782800-71784000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:71782800-71784400	Enhancers	Fetal Lung	lung
37	chr11:71783000-71784000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:71783000-71784000	Enhancers	Lung	lung
39	chr11:71783000-71784400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:71783000-71784400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr11:71783000-71784600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:71783000-71784600	Enhancers	Placenta	Placenta
43	chr11:71783000-71784800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:71783000-71784800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:71783000-71785000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:71783200-71784000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:71783200-71784000	Flanking Active TSS	Hela-S3	cervix
48	chr11:71783200-71784200	Enhancers	Fetal Thymus	thymus
49	chr11:71783200-71789000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:71783400-71784000	Enhancers	Fetal Muscle Trunk	muscle

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