Variant report

Variant	rs2248807
Chromosome Location	chr10:43916611-43916612
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	chr10:43915767-43916741	K562	blood:	n/a	n/a
2	POLR2A	chr10:43915762-43916671	GM12891	blood:	n/a	n/a
3	STAT3	chr10:43916476-43916675	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr10:43915752-43916693	GM10847	blood:	n/a	n/a
5	POLR2A	chr10:43915536-43916812	NB4	blood:	n/a	n/a
6	CEBPB	chr10:43916360-43916736	A549	lung:	n/a	chr10:43916554-43916563 chr10:43916552-43916565 chr10:43916554-43916563 chr10:43916554-43916563
7	USF1	chr10:43916411-43916748	SK-N-SH_RA	brain:	n/a	n/a
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	POLR2A	chr10:43915760-43916771	Hela-S3	cervix:	n/a	n/a
13	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
14	TEAD4	chr10:43916231-43916871	HepG2	liver:	n/a	n/a
15	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
16	E2F6	chr10:43915581-43916663	K562	blood:	n/a	chr10:43915792-43915800 chr10:43915790-43915804 chr10:43915792-43915800
17	USF1	chr10:43916381-43916755	SK-N-SH	brain:	n/a	n/a
18	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
19	HMGN3	chr10:43915570-43916890	K562	blood:	n/a	n/a
20	POLR2A	chr10:43915622-43916730	GM19193	blood:	n/a	n/a
21	E2F6	chr10:43915461-43916925	H1-hESC	embryonic stem cell:	n/a	chr10:43915792-43915800 chr10:43915790-43915804 chr10:43915792-43915800
22	WRNIP1	chr10:43916502-43916775	GM12878	blood:	n/a	n/a
23	RCOR1	chr10:43916421-43916777	K562	blood:	n/a	n/a
24	UBTF	chr10:43915779-43916686	K562	blood:	n/a	n/a
25	GTF2F1	chr10:43915982-43916616	K562	blood:	n/a	n/a
26	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
27	CEBPD	chr10:43916409-43916698	HepG2	liver:	n/a	chr10:43916554-43916563
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	POLR2A	chr10:43916194-43916674	K562	blood:	n/a	n/a
33	ZNF143	chr10:43916474-43916716	K562	blood:	n/a	n/a
34	RCOR1	chr10:43915668-43916797	K562	blood:	n/a	n/a
35	ELF1	chr10:43916243-43916716	A549	lung:	n/a	n/a
36	RAD21	chr10:43916062-43916700	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr10:43916358-43916802	ECC-1	luminal epithelium:	n/a	chr10:43916554-43916563 chr10:43916552-43916565 chr10:43916554-43916563 chr10:43916554-43916563
38	POLR2A	chr10:43915731-43916658	GM12891	blood:	n/a	n/a
39	POLR2A	chr10:43915653-43916727	SK-N-SH	brain:	n/a	n/a
40	PAX5	chr10:43916119-43916617	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:43915693-43916752	ProgFib	skin:	n/a	n/a
42	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
43	SIN3AK20	chr10:43915644-43916623	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr10:43915432-43916699	K562	blood:	n/a	n/a
45	POLR2A	chr10:43915678-43916805	HepG2	liver:	n/a	n/a
46	FOS	chr10:43916348-43916725	MCF10A-Er-Src	breast:	n/a	n/a
47	ELF1	chr10:43916308-43916613	HepG2	liver:	n/a	n/a
48	HCFC1	chr10:43915638-43916879	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr10:43916205-43916857	HCT-116	colon:	n/a	chr10:43916554-43916563 chr10:43916552-43916565 chr10:43916554-43916563 chr10:43916554-43916563
50	MYC	chr10:43916519-43916629	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	chr10:43915403..43918859-chr10:43929644..43933431,7	K562	blood:

Variant related genes	Relation type
ENSG00000221400	TF binding region
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1106215	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238575	1.00[ASN][1000 genomes]
rs17153601	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366781	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856400	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879311	1.00[ASN][1000 genomes]
rs2248707	0.87[AFR][1000 genomes]
rs2253260	1.00[ASN][1000 genomes]
rs2261637	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2264603	1.00[ASN][1000 genomes]
rs2265955	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812798	0.97[EUR][1000 genomes]
rs2819025	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999222	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999288	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2999290	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3006393	1.00[ASN][1000 genomes]
rs3006410	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3124211	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948727	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55765722	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037308	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087058	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234785	1.00[ASN][1000 genomes]
rs56237566	1.00[ASN][1000 genomes]
rs56252639	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275379	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072967	1.00[ASN][1000 genomes]
rs7073345	1.00[ASN][1000 genomes]
rs7084621	1.00[ASN][1000 genomes]
rs7085670	1.00[ASN][1000 genomes]
rs72785234	1.00[ASN][1000 genomes]
rs72785236	1.00[ASN][1000 genomes]
rs72785237	1.00[ASN][1000 genomes]
rs72785243	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785246	1.00[ASN][1000 genomes]
rs72785248	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785255	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785256	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785266	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787434	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916718	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9422365	0.88[AMR][1000 genomes];1.00[EUR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43915200-43916800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:43915200-43916800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr10:43915400-43917000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr10:43915400-43917000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:43915600-43916800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:43915600-43916800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:43915600-43916800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:43915600-43916800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr10:43915600-43916800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:43915600-43916800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:43915600-43916800	Active TSS	Aorta	Aorta
12	chr10:43915600-43916800	Active TSS	Brain Angular Gyrus	brain
13	chr10:43915600-43916800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr10:43915600-43916800	Active TSS	Esophagus	oesophagus
15	chr10:43915600-43916800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr10:43915600-43916800	Active TSS	Lung	lung
17	chr10:43915600-43916800	Active TSS	Ovary	ovary
18	chr10:43915600-43916800	Active TSS	Psoas Muscle	Psoas
19	chr10:43915600-43916800	Active TSS	Right Ventricle	heart
20	chr10:43915600-43916800	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr10:43915600-43916800	Flanking Active TSS	HMEC	breast
22	chr10:43915600-43916800	Flanking Active TSS	HUVEC	blood vessel
23	chr10:43915600-43917000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:43915600-43917000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr10:43915600-43917000	Active TSS	Fetal Brain Female	brain
26	chr10:43915600-43917000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr10:43915600-43917000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr10:43915600-43917000	Active TSS	Rectal Smooth Muscle	rectum
29	chr10:43915800-43916800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr10:43915800-43916800	Active TSS	Colon Smooth Muscle	Colon
31	chr10:43915800-43916800	Active TSS	Pancreas	Pancrea
32	chr10:43915800-43916800	Active TSS	NHLF	lung
33	chr10:43915800-43917000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:43915800-43917000	Active TSS	Fetal Stomach	stomach
35	chr10:43915800-43917000	Active TSS	GM12878-XiMat	blood
36	chr10:43915800-43917400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:43916000-43916800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr10:43916000-43916800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr10:43916000-43916800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr10:43916000-43916800	Active TSS	Fetal Heart	heart
41	chr10:43916000-43916800	Flanking Active TSS	NHEK	skin
42	chr10:43916000-43917000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr10:43916000-43917000	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr10:43916200-43916800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:43916200-43916800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr10:43916200-43916800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:43916200-43916800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr10:43916200-43916800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr10:43916200-43916800	Flanking Active TSS	Placenta	Placenta
50	chr10:43916200-43916800	Flanking Active TSS	Fetal Thymus	thymus

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