Variant report

Variant	rs112000211
Chromosome Location	chr10:978315-978316
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	MAZ	chr10:976375-978384	IMR90	lung:	n/a	chr10:978023-978030
2	POLR2A	chr10:977521-978355	K562	blood:	n/a	n/a
3	POLR2A	chr10:977323-978404	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr10:976657-978728	A549	lung:	n/a	n/a
5	CREB1	chr10:977403-978344	HepG2	liver:	n/a	n/a
6	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
7	ZBTB7A	chr10:977897-978349	K562	blood:	n/a	chr10:978031-978038
8	HEY1	chr10:977885-978648	HepG2	liver:	n/a	chr10:977945-977960
9	POLR2A	chr10:977299-979229	K562	blood:	n/a	n/a
10	POLR2A	chr10:977381-978330	MCF-7	breast:	n/a	n/a
11	POLR2A	chr10:977384-978441	HepG2	liver:	n/a	n/a
12	RFX5	chr10:977383-978329	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr10:975955-978318	GM19193	blood:	n/a	n/a
14	POLR2A	chr10:977311-978316	MCF-7	breast:	n/a	n/a
15	REST	chr10:977207-978316	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr10:977272-978362	K562	blood:	n/a	n/a
17	ZBTB7A	chr10:977724-978360	ECC-1	luminal epithelium:	n/a	chr10:978031-978038
18	POLR2A	chr10:977222-978687	A549	lung:	n/a	n/a
19	MAX	chr10:976986-978334	A549	lung:	n/a	chr10:978023-978030
20	POLR2A	chr10:976446-978392	K562	blood:	n/a	n/a
21	POLR2A	chr10:978128-978663	A549	lung:	n/a	n/a
22	POLR2A	chr10:975969-978360	GM19099	blood:	n/a	n/a
23	POLR2A	chr10:977887-978499	GM12892	blood:	n/a	n/a
24	POLR2A	chr10:977893-978315	U87	brain:	n/a	n/a
25	POLR2A	chr10:977369-978384	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr10:976385-978405	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr10:975689-978375	GM18505	blood:	n/a	n/a
28	POLR2A	chr10:977357-978585	GM12892	blood:	n/a	n/a
29	POLR2A	chr10:977354-978396	HepG2	liver:	n/a	n/a
30	POLR2A	chr10:977368-978380	ProgFib	skin:	n/a	n/a
31	POLR2A	chr10:975979-978526	GM18951	blood:	n/a	n/a
32	POLR2A	chr10:976659-978611	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:977275-978527	GM12878	blood:	n/a	n/a
34	GABPA	chr10:977309-978323	MCF-7	breast:	n/a	chr10:977866-977877 chr10:977866-977880 chr10:977868-977877 chr10:978045-978054
35	POLR2A	chr10:978314-978685	A549	lung:	n/a	n/a
36	POLR2A	chr10:976451-978680	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:976504-978489	MCF-7	breast:	n/a	n/a
38	POLR2A	chr10:975944-978348	GM15510	blood:	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:

Variant related genes	Relation type
LARP4B	TF binding region
ENSG00000229869	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000047056	Chromatin interaction
ENSG00000198646	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000205740	Chromatin interaction
ENSG00000067064	Chromatin interaction
ENSG00000238924	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:108 , 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	chr10:975800-978400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr10:975800-978400	Active TSS	Fetal Intestine Large	intestine
9	chr10:975800-978400	Active TSS	NHLF	lung
10	chr10:976000-978400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:976000-978400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:976000-978400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:976000-978400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:976000-978400	Active TSS	Esophagus	oesophagus
15	chr10:976000-978400	Active TSS	Fetal Intestine Small	intestine
16	chr10:976000-978400	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr10:976000-978600	Active TSS	Ovary	ovary
18	chr10:976200-978400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr10:976200-978400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr10:976200-978400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr10:976200-978400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:976200-978400	Active TSS	Aorta	Aorta
23	chr10:976200-978400	Active TSS	Colonic Mucosa	Colon
24	chr10:976200-978400	Active TSS	Fetal Muscle Trunk	muscle
25	chr10:976200-978400	Active TSS	Placenta	Placenta
26	chr10:976200-978600	Active TSS	Left Ventricle	heart
27	chr10:976200-978600	Active TSS	Right Atrium	heart
28	chr10:976200-978600	Active TSS	Hela-S3	cervix
29	chr10:976200-978800	Active TSS	Right Ventricle	heart
30	chr10:976200-978800	Active TSS	A549	lung
31	chr10:976200-979000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr10:976200-979000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:976200-979000	Active TSS	HSMM	muscle
34	chr10:976400-978400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr10:976400-978400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:976400-978400	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:976400-978400	Active TSS	Brain Hippocampus Middle	brain
38	chr10:976400-978400	Active TSS	Brain Substantia Nigra	brain
39	chr10:976400-978400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr10:976400-978400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr10:976400-978400	Active TSS	Lung	lung
42	chr10:976400-978400	Active TSS	Pancreas	Pancrea
43	chr10:976400-978400	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr10:976400-978400	Active TSS	NHEK	skin
45	chr10:976400-978600	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr10:976400-978800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:976400-979000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr10:976400-979200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr10:976600-978400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:976600-978400	Active TSS	Primary neutrophils fromperipheralblood	blood

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