Variant report

Variant	rs10101642
Chromosome Location	chr8:9534827-9534828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:9534680-9534830	HVMF	connective:	n/a	n/a
2	CTCF	chr8:9534700-9534850	HCT-116	colon:	n/a	n/a
3	RAD21	chr8:9534411-9534861	HCT-116	colon:	n/a	n/a
4	RAD21	chr8:9534499-9534829	GM12878	blood:	n/a	n/a
5	RAD21	chr8:9534234-9535157	SK-N-SH	brain:	n/a	n/a
6	RUNX3	chr8:9534753-9535081	GM12878	blood:	n/a	chr8:9534952-9534961 chr8:9534952-9534961
7	RAD21	chr8:9534429-9534835	SK-N-SH_RA	brain:	n/a	n/a
8	SMC3	chr8:9534492-9534852	HepG2	liver:	n/a	n/a
9	RAD21	chr8:9534347-9534893	HepG2	liver:	n/a	n/a
10	CTCF	chr8:9534474-9534872	IMR90	lung:	n/a	n/a
11	RAD21	chr8:9534416-9534888	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr8:9534511-9534853	GM12878	blood:	n/a	n/a
13	RAD21	chr8:9534506-9534829	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr8:9534467-9534859	HepG2	liver:	n/a	n/a
15	RAD21	chr8:9534449-9534861	HepG2	liver:	n/a	n/a
16	RAD21	chr8:9534398-9534891	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:9534424-9535040	A549	lung:	n/a	n/a
18	RAD21	chr8:9534411-9534913	A549	lung:	n/a	n/a
19	CTCF	chr8:9534259-9535029	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr8:9534432-9534859	SK-N-SH_RA	brain:	n/a	n/a
21	RAD21	chr8:9534436-9534839	HCT-116	colon:	n/a	n/a
22	CTCF	chr8:9534481-9534871	K562	blood:	n/a	n/a
23	CTCF	chr8:9534395-9534890	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:9534525-9534874	A549	lung:	n/a	n/a
25	CTCF	chr8:9534700-9534850	GM12869	blood:	n/a	n/a
26	RAD21	chr8:9534439-9534909	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr8:9534429-9534879	MCF-7	breast:	n/a	n/a
28	RAD21	chr8:9534481-9534849	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr8:9534517-9534847	MCF-7	breast:	n/a	n/a
30	SMC3	chr8:9534293-9535082	SK-N-SH	brain:	n/a	n/a
31	RAD21	chr8:9534479-9534848	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr8:9534366-9534887	A549	lung:	n/a	n/a
33	RAD21	chr8:9534465-9534955	MCF-7	breast:	n/a	n/a
34	RAD21	chr8:9534444-9534888	IMR90	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:9527569..9530106-chr8:9532810..9535408,3	K562	blood:
2	chr8:9195700..9196570-chr8:9534210..9534969,2	MCF-7	breast:
3	chr8:9177588..9178247-chr8:9534308..9535009,2	MCF-7	breast:
4	chr8:9195714..9196690-chr8:9534240..9534889,2	MCF-7	breast:

No data

Variant related genes	Relation type
TNKS	TF binding region
ENSG00000173273	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10089150	1.00[EUR][1000 genomes]
rs10090838	0.90[AMR][1000 genomes]
rs10092731	0.81[AMR][1000 genomes]
rs10093621	0.89[AMR][1000 genomes]
rs10094356	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098965	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101221	1.00[EUR][1000 genomes]
rs10102866	1.00[EUR][1000 genomes]
rs10104208	1.00[EUR][1000 genomes]
rs10109453	1.00[EUR][1000 genomes]
rs10111136	0.89[AMR][1000 genomes]
rs11990459	1.00[AMR][1000 genomes]
rs11993880	0.90[AMR][1000 genomes]
rs13260490	1.00[EUR][1000 genomes]
rs1458941	1.00[EUR][1000 genomes]
rs17155390	1.00[EUR][1000 genomes]
rs2409572	1.00[EUR][1000 genomes]
rs28398294	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28398977	0.89[AMR][1000 genomes]
rs28415429	1.00[AMR][1000 genomes]
rs28452227	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28479025	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28511573	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28523514	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28532946	0.89[AMR][1000 genomes]
rs28635251	1.00[EUR][1000 genomes]
rs28670159	0.89[AMR][1000 genomes]
rs28718248	1.00[AMR][1000 genomes]
rs2898215	1.00[EUR][1000 genomes]
rs3209607	1.00[EUR][1000 genomes]
rs34203681	1.00[AMR][1000 genomes]
rs34346955	1.00[AMR][1000 genomes]
rs34585234	0.89[AMR][1000 genomes]
rs34625531	1.00[EUR][1000 genomes]
rs35557473	0.89[AMR][1000 genomes]
rs4129362	1.00[AMR][1000 genomes]
rs4342598	1.00[EUR][1000 genomes]
rs4354311	1.00[AMR][1000 genomes]
rs4599815	1.00[EUR][1000 genomes]
rs4604434	0.89[AMR][1000 genomes]
rs55670933	1.00[EUR][1000 genomes]
rs55729276	1.00[EUR][1000 genomes]
rs55870346	1.00[EUR][1000 genomes]
rs55893352	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56188005	1.00[EUR][1000 genomes]
rs56302934	1.00[EUR][1000 genomes]
rs56326922	1.00[EUR][1000 genomes]
rs56411177	1.00[EUR][1000 genomes]
rs56784931	1.00[EUR][1000 genomes]
rs56951452	1.00[EUR][1000 genomes]
rs57026077	1.00[EUR][1000 genomes]
rs57027206	1.00[EUR][1000 genomes]
rs57673085	1.00[EUR][1000 genomes]
rs58165072	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58190269	1.00[EUR][1000 genomes]
rs58361831	1.00[EUR][1000 genomes]
rs58766098	1.00[EUR][1000 genomes]
rs58868633	1.00[EUR][1000 genomes]
rs58946539	1.00[AMR][1000 genomes]
rs59400423	1.00[EUR][1000 genomes]
rs59462993	1.00[EUR][1000 genomes]
rs59517107	1.00[EUR][1000 genomes]
rs59815980	1.00[EUR][1000 genomes]
rs60035611	1.00[EUR][1000 genomes]
rs60044335	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60206878	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60338966	1.00[EUR][1000 genomes]
rs60862678	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61515500	1.00[EUR][1000 genomes]
rs7002894	1.00[EUR][1000 genomes]
rs73523206	1.00[EUR][1000 genomes]
rs73523216	1.00[EUR][1000 genomes]
rs73523232	1.00[EUR][1000 genomes]
rs73524874	1.00[EUR][1000 genomes]
rs73524875	1.00[EUR][1000 genomes]
rs73526914	1.00[EUR][1000 genomes]
rs73526934	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526939	1.00[EUR][1000 genomes]
rs73526944	1.00[EUR][1000 genomes]
rs73526947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526950	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526954	1.00[EUR][1000 genomes]
rs73529194	1.00[EUR][1000 genomes]
rs73529199	1.00[EUR][1000 genomes]
rs73531222	1.00[EUR][1000 genomes]
rs73531224	1.00[EUR][1000 genomes]
rs73531227	1.00[EUR][1000 genomes]
rs73531236	1.00[EUR][1000 genomes]
rs73531638	1.00[EUR][1000 genomes]
rs73531644	1.00[EUR][1000 genomes]
rs73531647	1.00[EUR][1000 genomes]
rs73533809	1.00[EUR][1000 genomes]
rs73535823	1.00[EUR][1000 genomes]
rs73535825	1.00[EUR][1000 genomes]
rs73535829	1.00[EUR][1000 genomes]
rs73535847	1.00[EUR][1000 genomes]
rs73537913	1.00[EUR][1000 genomes]
rs73537918	1.00[EUR][1000 genomes]
rs73537929	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73537933	1.00[EUR][1000 genomes]
rs73537946	1.00[EUR][1000 genomes]
rs73537997	1.00[EUR][1000 genomes]
rs73539914	1.00[EUR][1000 genomes]
rs73539916	1.00[EUR][1000 genomes]
rs73539923	1.00[EUR][1000 genomes]
rs73539929	1.00[EUR][1000 genomes]
rs73662509	1.00[EUR][1000 genomes]
rs73662510	1.00[EUR][1000 genomes]
rs73662518	1.00[EUR][1000 genomes]
rs73662519	1.00[EUR][1000 genomes]
rs73664743	1.00[EUR][1000 genomes]
rs73664756	1.00[EUR][1000 genomes]
rs73664772	1.00[EUR][1000 genomes]
rs73664774	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73664775	1.00[EUR][1000 genomes]
rs73664780	1.00[EUR][1000 genomes]
rs73664783	1.00[EUR][1000 genomes]
rs7388458	1.00[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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
2	chr8:9509400-9545000	Weak transcription	HSMM	muscle
3	chr8:9510400-9563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:9511000-9564200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:9511400-9537000	Weak transcription	Left Ventricle	heart
6	chr8:9511600-9554600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:9512400-9551400	Weak transcription	Dnd41	blood
8	chr8:9512600-9537200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:9512600-9543800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:9513200-9564200	Weak transcription	Ovary	ovary
11	chr8:9513200-9567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:9513600-9543600	Weak transcription	Fetal Stomach	stomach
14	chr8:9513800-9563600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:9521000-9544800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:9521400-9544200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:9522000-9545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:9522400-9546000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:9523800-9545000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:9524200-9544600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:9528600-9536800	Weak transcription	Primary B cells from cord blood	blood
22	chr8:9528600-9536800	Weak transcription	Brain Angular Gyrus	brain
23	chr8:9529600-9545000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:9529600-9545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:9529600-9549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
27	chr8:9530000-9538800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:9530600-9543800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:9530600-9549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:9530800-9535200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:9530800-9543400	Weak transcription	Primary T cells from cord blood	blood
32	chr8:9530800-9549800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:9531200-9564000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:9532000-9543400	Weak transcription	A549	lung
35	chr8:9532000-9543400	Weak transcription	GM12878-XiMat	blood
36	chr8:9532400-9543400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:9532600-9536800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:9533200-9536800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:9534000-9536400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:9534200-9535000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:9534200-9535400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:9534400-9535000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr8:9534400-9535000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr8:9534400-9535000	Enhancers	Liver	Liver
45	chr8:9534400-9535000	Enhancers	Brain Substantia Nigra	brain
46	chr8:9534400-9535000	Enhancers	Fetal Intestine Small	intestine
47	chr8:9534400-9535000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr8:9534400-9535200	Enhancers	Brain Hippocampus Middle	brain
49	chr8:9534400-9535600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:9534400-9535600	Enhancers	Skeletal Muscle Male	skeletal muscle

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