Variant report

Variant	rs2248931
Chromosome Location	chr10:43916029-43916030
allele	C/G
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	USF2	chr10:43915753-43916152	Hela-S3	cervix:	n/a	chr10:43915983-43915994 chr10:43915960-43915976
2	POLR2A	chr10:43915767-43916741	K562	blood:	n/a	n/a
3	POLR2A	chr10:43915762-43916671	GM12891	blood:	n/a	n/a
4	MXI1	chr10:43915855-43916067	K562	blood:	n/a	chr10:43915986-43915995 chr10:43915984-43915993 chr10:43915986-43915995
5	POLR2A	chr10:43915752-43916693	GM10847	blood:	n/a	n/a
6	POLR2A	chr10:43915536-43916812	NB4	blood:	n/a	n/a
7	USF1	chr10:43915777-43916271	SK-N-SH_RA	brain:	n/a	chr10:43915984-43915995 chr10:43915960-43915976
8	MAFK	chr10:43916004-43916686	HepG2	liver:	n/a	chr10:43916346-43916361
9	POLR2A	chr10:43915681-43916698	Hela-S3	cervix:	n/a	n/a
10	GTF2F1	chr10:43915802-43916750	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr10:43915807-43916781	H1-hESC	embryonic stem cell:	n/a	chr10:43916554-43916563 chr10:43916552-43916565 chr10:43916554-43916563 chr10:43916554-43916563
12	CTCF	chr10:43915980-43916130	NHLF	lung:	n/a	n/a
13	POLR2A	chr10:43915760-43916771	Hela-S3	cervix:	n/a	n/a
14	MYC	chr10:43915805-43916750	Hela-S3	cervix:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
15	SIN3A	chr10:43916001-43916059	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr10:43915494-43916804	K562	blood:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
17	YY1	chr10:43915936-43916170	HCT-116	colon:	n/a	chr10:43915965-43915979
18	E2F6	chr10:43915581-43916663	K562	blood:	n/a	chr10:43915792-43915800 chr10:43915790-43915804 chr10:43915792-43915800
19	JUND	chr10:43915782-43916166	A549	lung:	n/a	chr10:43915969-43915978
20	MAX	chr10:43915624-43916833	HCT-116	colon:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
21	HMGN3	chr10:43915570-43916890	K562	blood:	n/a	n/a
22	POLR2A	chr10:43915622-43916730	GM19193	blood:	n/a	n/a
23	E2F6	chr10:43915461-43916925	H1-hESC	embryonic stem cell:	n/a	chr10:43915792-43915800 chr10:43915790-43915804 chr10:43915792-43915800
24	UBTF	chr10:43915779-43916686	K562	blood:	n/a	n/a
25	USF1	chr10:43915795-43916163	SK-N-SH_RA	brain:	n/a	chr10:43915984-43915995 chr10:43915960-43915976
26	GTF2F1	chr10:43915982-43916616	K562	blood:	n/a	n/a
27	MAX	chr10:43915537-43916780	NB4	blood:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
28	POLR2A	chr10:43915628-43916840	GM12892	blood:	n/a	n/a
29	MYC	chr10:43915763-43917028	MCF10A-Er-Src	breast:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
30	BHLHE40	chr10:43915800-43916872	HepG2	liver:	n/a	chr10:43915960-43915976
31	RELA	chr10:43915826-43916734	GM10847	blood:	n/a	n/a
32	ZBTB7A	chr10:43915812-43916059	HepG2	liver:	n/a	n/a
33	RCOR1	chr10:43915668-43916797	K562	blood:	n/a	n/a
34	POLR2A	chr10:43915731-43916658	GM12891	blood:	n/a	n/a
35	POLR2A	chr10:43915653-43916727	SK-N-SH	brain:	n/a	n/a
36	MYC	chr10:43915869-43916131	Hela-S3	cervix:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
37	POLR2A	chr10:43915722-43916338	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr10:43915693-43916752	ProgFib	skin:	n/a	n/a
39	MAX	chr10:43915575-43916779	H1-hESC	embryonic stem cell:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
40	SIN3AK20	chr10:43915644-43916623	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr10:43915432-43916699	K562	blood:	n/a	n/a
42	POLR2A	chr10:43915678-43916805	HepG2	liver:	n/a	n/a
43	TEAD4	chr10:43915800-43916105	H1-hESC	embryonic stem cell:	n/a	n/a
44	EBF1	chr10:43915738-43916128	GM12878	blood:	n/a	n/a
45	CHD1	chr10:43916002-43916605	H1-hESC	embryonic stem cell:	n/a	n/a
46	HCFC1	chr10:43915638-43916879	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr10:43915730-43916066	A549	lung:	n/a	n/a
48	CEBPB	chr10:43915715-43917004	A549	lung:	n/a	chr10:43916554-43916563 chr10:43916552-43916565 chr10:43916554-43916563 chr10:43916554-43916563
49	E2F6	chr10:43915705-43916826	A549	lung:	n/a	chr10:43915792-43915800 chr10:43915790-43915804 chr10:43915792-43915800
50	TBP	chr10:43915702-43916784	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43914713..43918981-chr10:43928825..43933676,11	MCF-7	breast:
2	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
3	chr10:43915886..43916471-chr20:42086401..42087011,2	NB4	blood:
4	chr10:43915403..43918859-chr10:43929644..43933431,7	K562	blood:
5	chr10:43914381..43916452-chr16:1830541..1833137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230555	TF binding region
ENSG00000221400	TF binding region
ENSG00000243660	Chromatin interaction
ENSG00000124193	Chromatin interaction
ENSG00000095906	Chromatin interaction
ENSG00000162032	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12257917	0.80[ASN][1000 genomes]
rs2247979	0.82[ASN][1000 genomes]
rs2247981	0.82[ASN][1000 genomes]
rs2251896	0.80[AFR][1000 genomes]
rs2252800	0.80[ASN][1000 genomes]
rs2255967	0.80[ASN][1000 genomes]
rs2492404	0.80[ASN][1000 genomes]
rs2492407	0.81[ASN][1000 genomes]
rs2819032	0.80[ASN][1000 genomes]
rs2999286	0.81[ASN][1000 genomes]
rs3000700	0.84[ASN][1000 genomes]
rs56059584	0.80[ASN][1000 genomes]
rs61859002	0.80[ASN][1000 genomes]
rs7070029	0.82[ASN][1000 genomes]
rs7088430	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer 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	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43915200-43916600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:43915200-43916800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:43915200-43916800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr10:43915400-43916200	Active TSS	Colonic Mucosa	Colon
5	chr10:43915400-43916400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:43915400-43916400	Active TSS	Osteobl	bone
7	chr10:43915400-43916600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:43915400-43916600	Active TSS	Brain Anterior Caudate	brain
9	chr10:43915400-43916600	Active TSS	Brain Cingulate Gyrus	brain
10	chr10:43915400-43916600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:43915400-43916600	Active TSS	Fetal Lung	lung
12	chr10:43915400-43917000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr10:43915400-43917000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:43915600-43916200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr10:43915600-43916200	Enhancers	Fetal Brain Male	brain
16	chr10:43915600-43916400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr10:43915600-43916400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr10:43915600-43916400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:43915600-43916400	Active TSS	Gastric	stomach
20	chr10:43915600-43916400	Active TSS	Small Intestine	intestine
21	chr10:43915600-43916400	Active TSS	HSMM	muscle
22	chr10:43915600-43916600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr10:43915600-43916600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr10:43915600-43916600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr10:43915600-43916600	Active TSS	Primary T cells from cord blood	blood
26	chr10:43915600-43916600	Active TSS	Liver	Liver
27	chr10:43915600-43916600	Active TSS	Brain Substantia Nigra	brain
28	chr10:43915600-43916600	Active TSS	Fetal Kidney	kidney
29	chr10:43915600-43916600	Active TSS	Left Ventricle	heart
30	chr10:43915600-43916600	Transcr. at gene 5' and 3'	Right Atrium	heart
31	chr10:43915600-43916600	Active TSS	HSMMtube	muscle
32	chr10:43915600-43916600	Active TSS	NHDF-Ad	bronchial
33	chr10:43915600-43916800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:43915600-43916800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:43915600-43916800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:43915600-43916800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr10:43915600-43916800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:43915600-43916800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:43915600-43916800	Active TSS	Aorta	Aorta
40	chr10:43915600-43916800	Active TSS	Brain Angular Gyrus	brain
41	chr10:43915600-43916800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr10:43915600-43916800	Active TSS	Esophagus	oesophagus
43	chr10:43915600-43916800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr10:43915600-43916800	Active TSS	Lung	lung
45	chr10:43915600-43916800	Active TSS	Ovary	ovary
46	chr10:43915600-43916800	Active TSS	Psoas Muscle	Psoas
47	chr10:43915600-43916800	Active TSS	Right Ventricle	heart
48	chr10:43915600-43916800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr10:43915600-43916800	Flanking Active TSS	HMEC	breast
50	chr10:43915600-43916800	Flanking Active TSS	HUVEC	blood vessel

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