Variant report

Variant	rs573323851
Chromosome Location	chr10:977885-977886
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	MYC	chr10:977839-978185	HepG2	liver:	n/a	chr10:978023-978030
2	GABPA	chr10:977386-978126	SK-N-SH	brain:	n/a	chr10:977866-977877 chr10:977866-977880 chr10:977868-977877 chr10:978045-978054
3	CCNT2	chr10:976675-978128	K562	blood:	n/a	n/a
4	E2F4	chr10:977416-978060	K562	blood:	n/a	chr10:977811-977820 chr10:978049-978058 chr10:977867-977876
5	MAZ	chr10:976375-978384	IMR90	lung:	n/a	chr10:978023-978030
6	PML	chr10:977385-978284	GM12878	blood:	n/a	n/a
7	ELK1	chr10:977544-978138	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr10:977521-978355	K562	blood:	n/a	n/a
9	BHLHE40	chr10:977554-978115	K562	blood:	n/a	n/a
10	MAX	chr10:977552-978274	H1-hESC	embryonic stem cell:	n/a	chr10:978023-978030
11	GABPA	chr10:977073-978273	K562	blood:	n/a	chr10:977866-977877 chr10:977866-977880 chr10:977868-977877 chr10:978045-978054
12	SP1	chr10:977434-978054	GM12878	blood:	n/a	chr10:977669-977678 chr10:977805-977814 chr10:977667-977679 chr10:977667-977679 chr10:977668-977677 chr10:977804-977816
13	ELF1	chr10:977410-978273	MCF-7	breast:	n/a	chr10:977647-977658 chr10:977646-977659 chr10:977648-977657 chr10:977668-977680
14	JUND	chr10:977468-978112	K562	blood:	n/a	chr10:977807-977816
15	ZBTB7A	chr10:977779-978273	K562	blood:	n/a	chr10:978031-978038
16	POLR2A	chr10:976006-978240	IMR90	lung:	n/a	n/a
17	ELF1	chr10:977372-977924	GM12878	blood:	n/a	chr10:977647-977658 chr10:977646-977659 chr10:977648-977657 chr10:977668-977680
18	POLR2A	chr10:977323-978404	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr10:977401-978208	GM10847	blood:	n/a	n/a
20	POLR2A	chr10:975961-978259	GM18526	blood:	n/a	n/a
21	MAZ	chr10:977456-978184	K562	blood:	n/a	chr10:978023-978030
22	POLR2A	chr10:977427-978223	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:976657-978728	A549	lung:	n/a	n/a
24	CREB1	chr10:977403-978344	HepG2	liver:	n/a	n/a
25	HA-E2F1	chr10:977246-978125	Hela-S3	cervix:	n/a	chr10:977811-977820 chr10:978049-978058 chr10:977691-977702 chr10:977303-977312 chr10:977867-977876
26	SP1	chr10:977500-978272	A549	lung:	n/a	chr10:977669-977678 chr10:977805-977814 chr10:977667-977679 chr10:977667-977679 chr10:977668-977677 chr10:977804-977816
27	ELF1	chr10:976430-978327	GM12878	blood:	n/a	chr10:977647-977658 chr10:977324-977336 chr10:977646-977659 chr10:977648-977657 chr10:976737-976750 chr10:977668-977680 chr10:976738-976749
28	CREB1	chr10:977542-977906	A549	lung:	n/a	n/a
29	POLR2A	chr10:975992-978265	GM12892	blood:	n/a	n/a
30	POLR2A	chr10:977414-978263	MCF10A-Er-Src	breast:	n/a	n/a
31	MXI1	chr10:977276-978227	HepG2	liver:	n/a	n/a
32	POLR2A	chr10:977400-978246	HCT-116	colon:	n/a	n/a
33	HEY1	chr10:977885-978648	HepG2	liver:	n/a	chr10:977945-977960
34	BHLHE40	chr10:977609-978009	HepG2	liver:	n/a	n/a
35	TAF1	chr10:977878-978199	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr10:977439-978125	Hela-S3	cervix:	n/a	chr10:977804-977814 chr10:977690-977700
37	POLR2A	chr10:977415-978226	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr10:977299-979229	K562	blood:	n/a	n/a
39	RFX5	chr10:977571-977933	HepG2	liver:	n/a	n/a
40	ZNF143	chr10:977512-978144	GM12878	blood:	n/a	n/a
41	MAX	chr10:977556-978107	HepG2	liver:	n/a	chr10:978023-978030
42	POLR2A	chr10:977381-978330	MCF-7	breast:	n/a	n/a
43	GABPA	chr10:977363-977893	K562	blood:	n/a	chr10:977866-977877 chr10:977866-977880 chr10:977868-977877
44	ZBTB33	chr10:977472-977890	GM12878	blood:	n/a	chr10:977673-977683
45	POLR2A	chr10:975853-977885	GM12892	blood:	n/a	n/a
46	ZBTB7A	chr10:977801-978240	HepG2	liver:	n/a	chr10:978031-978038
47	CREB1	chr10:977494-978233	HepG2	liver:	n/a	n/a
48	NRF1	chr10:977669-977890	H1-hESC	embryonic stem cell:	n/a	chr10:977866-977877 chr10:977866-977880 chr10:977868-977877
49	SP1	chr10:977536-977908	H1-hESC	embryonic stem cell:	n/a	chr10:977669-977678 chr10:977805-977814 chr10:977667-977679 chr10:977667-977679 chr10:977668-977677 chr10:977804-977816
50	POLR2A	chr10:977426-978304	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:975330..979257-chr10:1093215..1097529,5	K562	blood:
2	chr10:976566..978917-chr20:33411823..33413821,2	MCF-7	breast:
3	chr10:977031..978658-chr10:1101205..1103073,2	K562	blood:
4	chr10:976344..979673-chr10:1032747..1036349,14	K562	blood:
5	chr10:974670..978531-chr10:1101117..1104171,5	K562	blood:
6	chr10:975309..980832-chr10:1031626..1035973,12	K562	blood:
7	chr10:975582..978698-chr10:1119494..1122267,3	MCF-7	breast:
8	chr10:974439..980732-chr10:1030011..1038533,28	MCF-7	breast:
9	chr10:976647..980794-chr10:1093154..1097319,8	MCF-7	breast:
10	chr10:976200..979208-chr10:1093606..1097726,5	MCF-7	breast:
11	chr10:975330..979545-chr10:1093428..1097529,6	K562	blood:
12	chr10:976553..979064-chr17:56707717..56709888,2	MCF-7	breast:
13	chr10:976152..979108-chr10:1085303..1088696,4	MCF-7	breast:
14	chr10:974636..980819-chr10:1029938..1037009,15	MCF-7	breast:
15	chr10:975799..978442-chr10:1098842..1102725,4	MCF-7	breast:
16	chr10:977686..978278-chr3:23958133..23959063,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000229869	TF binding region
LARP4B	TF binding region
ENSG00000197885	Chromatin interaction
ENSG00000047056	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000198646	Chromatin interaction
ENSG00000205740	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000238924	Chromatin interaction
ENSG00000067064	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv1043812	chr10:776547-981126	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv540406	chr10:776547-981126	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
8	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
9	nsv948978	chr10:813426-1019115	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	nsv825207	chr10:957020-1005451	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	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
17	nsv825208	chr10:965883-1004836	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	esv3381643	chr10:975752-979950	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	esv3422446	chr10:975977-978525	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv3394984	chr10:976102-979400	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	esv3422999	chr10:976377-979825	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	esv3370662	chr10:976702-979450	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:975200-979200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:975600-978400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:975600-978400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:975600-978400	Active TSS	GM12878-XiMat	blood
5	chr10:975600-978800	Active TSS	Psoas Muscle	Psoas
6	chr10:975600-979000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr10:975800-978200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr10:975800-978200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr10:975800-978200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:975800-978400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr10:975800-978400	Active TSS	Fetal Intestine Large	intestine
12	chr10:975800-978400	Active TSS	NHLF	lung
13	chr10:976000-978200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:976000-978200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:976000-978200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:976000-978200	Active TSS	HSMMtube	muscle
17	chr10:976000-978400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:976000-978400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:976000-978400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:976000-978400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:976000-978400	Active TSS	Esophagus	oesophagus
22	chr10:976000-978400	Active TSS	Fetal Intestine Small	intestine
23	chr10:976000-978400	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr10:976000-978600	Active TSS	Ovary	ovary
25	chr10:976200-978200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr10:976200-978200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:976200-978200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr10:976200-978200	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr10:976200-978200	Active TSS	Small Intestine	intestine
30	chr10:976200-978200	Active TSS	NHDF-Ad	bronchial
31	chr10:976200-978400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr10:976200-978400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr10:976200-978400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr10:976200-978400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:976200-978400	Active TSS	Aorta	Aorta
36	chr10:976200-978400	Active TSS	Colonic Mucosa	Colon
37	chr10:976200-978400	Active TSS	Fetal Muscle Trunk	muscle
38	chr10:976200-978400	Active TSS	Placenta	Placenta
39	chr10:976200-978600	Active TSS	Left Ventricle	heart
40	chr10:976200-978600	Active TSS	Right Atrium	heart
41	chr10:976200-978600	Active TSS	Hela-S3	cervix
42	chr10:976200-978800	Active TSS	Right Ventricle	heart
43	chr10:976200-978800	Active TSS	A549	lung
44	chr10:976200-979000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr10:976200-979000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:976200-979000	Active TSS	HSMM	muscle
47	chr10:976400-978200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:976400-978200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:976400-978200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:976400-978200	Active TSS	Duodenum Smooth Muscle	Duodenum

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