Variant report

Variant	rs7100196
Chromosome Location	chr10:1096932-1096933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr10:1096276-1096944	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:1096150-1097171	K562	blood:	n/a	n/a
3	POLR2A	chr10:1096621-1096946	HepG2	liver:	n/a	n/a
4	MAX	chr10:1096414-1096936	MCF-7	breast:	n/a	n/a
5	CHD1	chr10:1093464-1096968	IMR90	lung:	n/a	chr10:1095411-1095421 chr10:1095080-1095087 chr10:1094729-1094739 chr10:1095408-1095418
6	POLR2A	chr10:1093402-1097928	K562	blood:	n/a	n/a
7	POLR2A	chr10:1094076-1096936	A549	lung:	n/a	n/a
8	POLR2A	chr10:1093391-1097389	Hela-S3	cervix:	n/a	n/a
9	BHLHE40	chr10:1096043-1096938	K562	blood:	n/a	n/a
10	POLR2A	chr10:1096477-1096948	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:1096562-1097039	GM12878	blood:	n/a	n/a
12	BCLAF1	chr10:1096469-1096975	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:1096571-1097098	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:1093515-1097127	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr10:1093541-1097006	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr10:1093593-1096958	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr10:1096808-1097111	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr10:1093578-1097740	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr10:1093432-1097602	IMR90	lung:	n/a	n/a
20	POLR2A	chr10:1093533-1097129	HepG2	liver:	n/a	n/a
21	RAD21	chr10:1096520-1096978	HepG2	liver:	n/a	n/a
22	POLR2A	chr10:1093469-1098007	GM12891	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1090197..1098635-chr10:1098667..1108160,39	K562	blood:
2	chr10:1083077..1085466-chr10:1096305..1099633,3	MCF-7	breast:
3	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:
4	chr10:975330..979257-chr10:1093215..1097529,5	K562	blood:
5	chr10:976200..979208-chr10:1093606..1097726,5	MCF-7	breast:
6	chr10:975330..979545-chr10:1093428..1097529,6	K562	blood:
7	chr10:976647..980794-chr10:1093154..1097319,8	MCF-7	breast:
8	chr10:1095340..1097626-chr10:1118637..1120510,2	MCF-7	breast:
9	chr10:1033990..1039615-chr10:1093691..1098446,7	MCF-7	breast:
10	chr10:1033680..1035425-chr10:1096903..1098612,2	MCF-7	breast:

No data

Variant related genes	Relation type
IDI1	TF binding region
ENSG00000238924	Chromatin interaction
ENSG00000229869	Chromatin interaction
ENSG00000047056	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000107929	Chromatin interaction
ENSG00000205740	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10508206	1.00[CHB][hapmap]
rs10903359	1.00[CHB][hapmap]
rs11250228	1.00[CHB][hapmap]
rs11814057	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12762955	1.00[CHB][hapmap]
rs12784928	1.00[CHB][hapmap];0.86[YRI][hapmap]
rs35657988	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4463782	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7072554	1.00[CHB][hapmap];0.87[YRI][hapmap]
rs7075188	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7089968	1.00[CHB][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
3	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
12	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv1040178	chr10:1024910-1126104	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv540410	chr10:1024910-1126104	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv894722	chr10:1058837-1274538	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
19	nsv1046220	chr10:1064024-1188998	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv894723	chr10:1073684-1259485	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
21	nsv5532	chr10:1079499-1101700	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv894724	chr10:1084942-1116294	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr10:1093400-1097000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr10:1093600-1097200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:1094600-1097000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:1095600-1097000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr10:1095600-1097000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:1095600-1097000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:1095800-1097000	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr10:1095800-1097000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr10:1095800-1097000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:1095800-1102000	Weak transcription	Spleen	Spleen
11	chr10:1096000-1097000	Enhancers	Colon Smooth Muscle	Colon
12	chr10:1096000-1097400	Enhancers	Fetal Heart	heart
13	chr10:1096000-1097800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:1096000-1098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:1096000-1098400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:1096000-1098600	Weak transcription	Ovary	ovary
17	chr10:1096000-1099600	Weak transcription	Pancreas	Pancrea
18	chr10:1096000-1101800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr10:1096000-1101800	Weak transcription	Gastric	stomach
20	chr10:1096200-1097400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:1096200-1097600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr10:1096200-1100800	Weak transcription	Aorta	Aorta
23	chr10:1096400-1097000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr10:1096400-1097200	Enhancers	Adipose Nuclei	Adipose
25	chr10:1096400-1097200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:1096400-1097400	Enhancers	Brain Hippocampus Middle	brain
27	chr10:1096400-1097400	Enhancers	Fetal Intestine Large	intestine
28	chr10:1096400-1097600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr10:1096400-1097600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr10:1096400-1097800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:1096400-1098400	Weak transcription	Right Ventricle	heart
32	chr10:1096400-1098800	Genic enhancers	Brain Germinal Matrix	brain
33	chr10:1096600-1097000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr10:1096600-1097000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:1096600-1097000	Flanking Active TSS	Fetal Brain Female	brain
36	chr10:1096600-1097000	Flanking Active TSS	HMEC	breast
37	chr10:1096600-1097200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:1096600-1097200	Genic enhancers	Brain Substantia Nigra	brain
39	chr10:1096600-1097200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
40	chr10:1096600-1097200	Transcr. at gene 5' and 3'	A549	lung
41	chr10:1096600-1097200	Flanking Active TSS	GM12878-XiMat	blood
42	chr10:1096600-1097200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
43	chr10:1096600-1097400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:1096600-1097400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:1096600-1097400	Enhancers	Primary B cells from cord blood	blood
46	chr10:1096600-1097400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr10:1096600-1097600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr10:1096600-1097600	Genic enhancers	Rectal Mucosa Donor 31	rectum
49	chr10:1096600-1097800	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr10:1096600-1100000	Genic enhancers	Liver	Liver

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