Variant report

Variant	rs113447214
Chromosome Location	chr10:1092557-1092558
allele	C/T
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	chr10:1088970-1092654	PBDE	blood:	n/a	n/a
2	POLR2A	chr10:1091569-1092659	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr10:1092189-1092569	GM12892	blood:	n/a	n/a
4	POLR2A	chr10:1092241-1092559	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr10:1092192-1092565	GM12891	blood:	n/a	n/a
6	POLR2A	chr10:1092117-1092598	GM12892	blood:	n/a	n/a
7	POLR2A	chr10:1092045-1092580	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:1092124-1092581	GM12892	blood:	n/a	n/a
9	TCF3	chr10:1092358-1092570	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:1088966-1092589	IMR90	lung:	n/a	n/a
11	POLR2A	chr10:1092131-1092815	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:1090197..1098635-chr10:1098667..1108160,39	K562	blood:
2	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:
3	chr10:1032470..1034485-chr10:1092422..1096343,5	MCF-7	breast:

Variant related genes	Relation type
WDR37	TF binding region
RNU7-163P	TF binding region
ENSG00000205740	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000067064	Chromatin interaction
ENSG00000047056	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 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
23	esv3497616	chr10:1091673-1096308	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	esv3497617	chr10:1091673-1096308	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	esv3370459	chr10:1091802-1094475	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
26	esv2483699	chr10:1092125-1093982	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
27	esv3452775	chr10:1092302-1094050	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
28	esv3452786	chr10:1092302-1094050	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
29	nsv512136	chr10:1092349-1095373	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:1082600-1094000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr10:1084000-1093400	Weak transcription	Aorta	Aorta
4	chr10:1084200-1093400	Weak transcription	Thymus	Thymus
5	chr10:1088000-1093400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:1089200-1092800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr10:1089400-1093600	Weak transcription	Fetal Kidney	kidney
8	chr10:1089600-1092600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:1089600-1093600	Weak transcription	Placenta	Placenta
10	chr10:1089800-1093400	Weak transcription	Fetal Intestine Small	intestine
11	chr10:1089800-1093400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr10:1090000-1092600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr10:1090000-1092600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr10:1090000-1093400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr10:1090000-1093400	Weak transcription	HSMMtube	muscle
16	chr10:1090000-1093600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:1090000-1093600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:1090200-1092600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:1090200-1092600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:1090200-1092600	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr10:1090200-1092800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:1090200-1092800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr10:1090400-1092800	Enhancers	Primary B cells from peripheral blood	blood
24	chr10:1090400-1092800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:1090400-1093400	Weak transcription	Psoas Muscle	Psoas
26	chr10:1090600-1092800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr10:1090600-1092800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:1090600-1092800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:1090600-1093400	Weak transcription	Fetal Thymus	thymus
30	chr10:1090800-1092600	Flanking Active TSS	HUVEC	blood vessel
31	chr10:1090800-1092800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr10:1090800-1093400	Weak transcription	Right Ventricle	heart
33	chr10:1091000-1092600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr10:1091000-1092600	Active TSS	NHLF	lung
35	chr10:1091000-1093800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:1091200-1093400	Weak transcription	Left Ventricle	heart
37	chr10:1091400-1092600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:1091400-1092600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr10:1091400-1092600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
40	chr10:1091400-1092600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr10:1091400-1092600	Enhancers	Spleen	Spleen
42	chr10:1091400-1092800	Enhancers	Gastric	stomach
43	chr10:1091400-1093600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:1091600-1092600	Flanking Active TSS	Liver	Liver
45	chr10:1091600-1092600	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr10:1091600-1092600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr10:1091600-1092600	Transcr. at gene 5' and 3'	NHEK	skin
48	chr10:1091600-1092800	Enhancers	Pancreas	Pancrea
49	chr10:1091600-1092800	Enhancers	Stomach Mucosa	stomach
50	chr10:1091600-1093400	Weak transcription	Fetal Muscle Leg	muscle

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