Variant report

Variant	rs73592575
Chromosome Location	chr10:21786183-21786184
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	TAF1	chr10:21784524-21786521	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr10:21784743-21786359	HCT-116	colon:	n/a	n/a
3	REST	chr10:21786062-21786493	PFSK-1	brain:	n/a	chr10:21786133-21786143
4	POLR2A	chr10:21784235-21786550	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr10:21786086-21786498	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr10:21784458-21786649	HCT-116	colon:	n/a	chr10:21786578-21786586
7	TEAD4	chr10:21786085-21786528	H1-hESC	embryonic stem cell:	n/a	n/a
8	UBTF	chr10:21785348-21786350	K562	blood:	n/a	n/a
9	MAX	chr10:21785981-21786500	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr10:21785204-21786710	SK-N-SH	brain:	n/a	n/a
11	EGR1	chr10:21785200-21786534	HCT-116	colon:	n/a	chr10:21786017-21786030 chr10:21785661-21785671 chr10:21786018-21786029 chr10:21786017-21786030 chr10:21786018-21786027 chr10:21785662-21785675 chr10:21786016-21786031 chr10:21786017-21786030 chr10:21786016-21786030 chr10:21786018-21786028 chr10:21786083-21786096 chr10:21785496-21785510
12	POLR2A	chr10:21784442-21786743	H1-neurons	neurons:	n/a	n/a
13	NFIC	chr10:21785688-21786567	SK-N-SH	brain:	n/a	n/a
14	YY1	chr10:21785198-21786260	K562	blood:	n/a	chr10:21785476-21785485 chr10:21785282-21785296 chr10:21786122-21786136 chr10:21785661-21785670 chr10:21785897-21785911
15	POLR2A	chr10:21784727-21786291	K562	blood:	n/a	n/a
16	POLR2A	chr10:21784470-21786821	H1-neurons	neurons:	n/a	n/a
17	RAD21	chr10:21785491-21786546	ECC-1	luminal epithelium:	n/a	n/a
18	REST	chr10:21786039-21786423	PANC-1	pancreas:	n/a	chr10:21786133-21786143
19	MAFF	chr10:21786147-21786563	HepG2	liver:	n/a	n/a
20	EP300	chr10:21785969-21786587	ECC-1	luminal epithelium:	n/a	chr10:21786434-21786443 chr10:21786253-21786269
21	POLR2A	chr10:21784283-21786540	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr10:21783039-21786582	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:21784718-21786316	K562	blood:	n/a	n/a
24	ZBTB33	chr10:21786086-21786455	A549	lung:	n/a	n/a
25	CTCF	chr10:21782536-21786722	A549	lung:	n/a	n/a
26	POLR2A	chr10:21782862-21786620	PANC-1	pancreas:	n/a	n/a
27	CHD2	chr10:21784532-21786444	HepG2	liver:	n/a	n/a
28	POLR2A	chr10:21784436-21786516	U87	brain:	n/a	n/a
29	SP1	chr10:21783162-21786672	A549	lung:	n/a	chr10:21786094-21786104 chr10:21785036-21785050 chr10:21785660-21785669 chr10:21786087-21786097 chr10:21786251-21786260 chr10:21786249-21786261 chr10:21785659-21785671 chr10:21786095-21786104 chr10:21785015-21785029 chr10:21786086-21786098 chr10:21785660-21785674 chr10:21785661-21785670 chr10:21786088-21786097 chr10:21785660-21785669 chr10:21783255-21783269 chr10:21785214-21785228 chr10:21786086-21786098 chr10:21786087-21786101
30	RAD21	chr10:21785584-21786496	HepG2	liver:	n/a	n/a
31	YY1	chr10:21785534-21786424	A549	lung:	n/a	chr10:21786122-21786136 chr10:21785661-21785670 chr10:21785897-21785911
32	MAX	chr10:21786104-21786512	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr10:21784486-21786410	A549	lung:	n/a	n/a
34	PBX3	chr10:21786016-21786496	A549	lung:	n/a	n/a
35	EP300	chr10:21786140-21786518	SK-N-SH_RA	brain:	n/a	chr10:21786434-21786443 chr10:21786253-21786269
36	POLR2A	chr10:21784647-21786299	K562	blood:	n/a	n/a
37	TCF12	chr10:21785873-21786684	ECC-1	luminal epithelium:	n/a	chr10:21786284-21786292
38	JUND	chr10:21786092-21786400	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr10:21785304-21786542	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr10:21785195-21786287	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr10:21785564-21786662	HepG2	liver:	n/a	n/a
42	TCF7L2	chr10:21784527-21786458	HCT-116	colon:	n/a	chr10:21785086-21785095 chr10:21785087-21785097
43	POLR2A	chr10:21784499-21786344	A549	lung:	n/a	n/a
44	MAZ	chr10:21784543-21786467	K562	blood:	n/a	n/a
45	ZBTB7A	chr10:21784616-21786570	ECC-1	luminal epithelium:	n/a	n/a
46	MXI1	chr10:21785785-21786448	Hela-S3	cervix:	n/a	n/a
47	MAX	chr10:21786153-21786332	K562	blood:	n/a	n/a
48	MAX	chr10:21784508-21786554	HCT-116	colon:	n/a	n/a
49	MYC	chr10:21785445-21786390	MCF-7	breast:	n/a	n/a
50	POLR2A	chr10:21786007-21786375	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:21783475..21788073-chr10:21802793..21808915,11	MCF-7	breast:
2	chr10:21462007..21464472-chr10:21781862..21786298,5	MCF-7	breast:
3	chr10:21782892..21787980-chr10:21813728..21817191,12	MCF-7	breast:
4	chr10:21784438..21786291-chr10:22610167..22612882,2	MCF-7	breast:
5	chr10:21783009..21787738-chr10:21813105..21820576,17	MCF-7	breast:
6	chr10:21784405..21786921-chr10:21820578..21824484,6	MCF-7	breast:
7	chr10:21784105..21788419-chr10:21820020..21825934,15	K562	blood:
8	chr10:21784774..21789957-chr10:21820858..21826220,9	MCF-7	breast:
9	chr10:21783888..21789239-chr10:21811898..21819387,16	K562	blood:
10	chr10:21783306..21788486-chr10:21805319..21811721,9	K562	blood:

Variant related genes	Relation type
MIR1915	TF binding region
ENSG00000180592	Chromatin interaction
ENSG00000231920	Chromatin interaction
ENSG00000168283	Chromatin interaction
ENSG00000078114	Chromatin interaction
ENSG00000078403	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4083949	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55974260	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs56105137	1.00[ASN][1000 genomes]
rs68172811	0.92[AFR][1000 genomes]
rs7076249	1.00[EUR][1000 genomes]
rs72794828	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825284	chr10:21739527-21847437	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv825285	chr10:21742026-21874334	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv825286	chr10:21757784-21838890	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv825288	chr10:21759085-21831354	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
5	nsv825289	chr10:21762506-21845875	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
6	nsv527055	chr10:21764019-21822856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv825290	chr10:21777857-21830878	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
8	nsv894936	chr10:21781589-21827796	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv550200	chr10:21782842-21824727	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
10	nsv894937	chr10:21782842-21827796	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
11	nsv517469	chr10:21783634-21822856	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
12	nsv894938	chr10:21784899-21827796	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 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	chr10:21782600-21786400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:21783000-21786600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr10:21783000-21786600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr10:21783000-21786600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr10:21783000-21786600	Active TSS	Brain Cingulate Gyrus	brain
6	chr10:21783000-21786600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:21783000-21786600	Active TSS	Brain Substantia Nigra	brain
8	chr10:21783000-21786600	Active TSS	Colon Smooth Muscle	Colon
9	chr10:21783000-21786600	Active TSS	Ovary	ovary
10	chr10:21783000-21786800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:21783000-21786800	Active TSS	Brain Angular Gyrus	brain
12	chr10:21783200-21786200	Active TSS	Psoas Muscle	Psoas
13	chr10:21783200-21786600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:21783200-21786600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr10:21783200-21786600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr10:21783200-21786600	Active TSS	Aorta	Aorta
17	chr10:21783200-21786600	Active TSS	Fetal Kidney	kidney
18	chr10:21783200-21786600	Active TSS	Left Ventricle	heart
19	chr10:21783200-21786600	Active TSS	Right Ventricle	heart
20	chr10:21783200-21786600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr10:21783200-21786800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:21783200-21786800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:21783200-21786800	Active TSS	Fetal Lung	lung
24	chr10:21783200-21786800	Active TSS	NHDF-Ad	bronchial
25	chr10:21783200-21787000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr10:21783400-21786200	Active TSS	Esophagus	oesophagus
27	chr10:21783400-21786400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:21783400-21786400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr10:21783400-21786400	Active TSS	Brain Hippocampus Middle	brain
30	chr10:21783400-21786400	Active TSS	HSMM	muscle
31	chr10:21783400-21786600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:21783400-21786600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:21783400-21786600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr10:21783400-21786600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:21783400-21786600	Active TSS	Rectal Smooth Muscle	rectum
36	chr10:21783400-21786800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr10:21783600-21786200	Active TSS	NH-A	brain
38	chr10:21783600-21786400	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr10:21783600-21786600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr10:21783600-21786600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr10:21783600-21786600	Active TSS	A549	lung
42	chr10:21783600-21786600	Active TSS	HSMMtube	muscle
43	chr10:21783600-21786800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:21783800-21786400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:21784000-21786400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:21784000-21786800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:21784200-21786600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:21784400-21786200	Active TSS	Fetal Intestine Small	intestine
49	chr10:21784400-21786600	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr10:21784400-21786600	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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