Variant report

Variant	rs10180765
Chromosome Location	chr2:96783675-96783676
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	RAD21	chr2:96783539-96783844	HepG2	liver:	n/a	n/a
2	USF1	chr2:96783555-96783802	HepG2	liver:	n/a	chr2:96783688-96783699
3	CTCF	chr2:96783660-96783810	HEEpiC	esophagus:	n/a	chr2:96783740-96783753
4	POLR2A	chr2:96783480-96784091	GM12878	blood:	n/a	n/a
5	CTCF	chr2:96783640-96783790	GM12865	blood:	n/a	chr2:96783645-96783653 chr2:96783740-96783753
6	CTCF	chr2:96783642-96783741	GM10266	blood:	n/a	chr2:96783645-96783653
7	MYC	chr2:96783516-96783917	MCF-7	breast:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
8	USF1	chr2:96783563-96783851	A549	lung:	n/a	chr2:96783688-96783699
9	CTCF	chr2:96783604-96783843	H1-hESC	embryonic stem cell:	n/a	chr2:96783645-96783653 chr2:96783740-96783753
10	USF1	chr2:96783441-96783848	ECC-1	luminal epithelium:	n/a	chr2:96783688-96783699
11	MYC	chr2:96783619-96783807	MCF-7	breast:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
12	USF1	chr2:96783551-96783860	H1-hESC	embryonic stem cell:	n/a	chr2:96783688-96783699
13	CTCF	chr2:96783533-96783925	K562	blood:	n/a	chr2:96783645-96783653 chr2:96783740-96783753
14	POLR2A	chr2:96783618-96783743	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:96783520-96783806	HCT-116	colon:	n/a	n/a
16	USF1	chr2:96783558-96783814	K562	blood:	n/a	chr2:96783688-96783699
17	CTCF	chr2:96783640-96783790	AG04449	skin:	n/a	chr2:96783645-96783653 chr2:96783740-96783753
18	CTCF	chr2:96783560-96783710	HepG2	liver:	n/a	chr2:96783645-96783653
19	CTCF	chr2:96783660-96783810	HRPEpiC	eye:	n/a	chr2:96783740-96783753
20	CTCF	chr2:96783673-96783768	Pancreas_OC	pancreas:	n/a	chr2:96783740-96783753
21	MAX	chr2:96783209-96783988	HCT-116	colon:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
22	USF2	chr2:96783547-96783873	HepG2	liver:	n/a	chr2:96783688-96783699
23	MAX	chr2:96783484-96783936	HepG2	liver:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
24	CTCF	chr2:96783610-96783828	GM12891	blood:	n/a	chr2:96783645-96783653 chr2:96783740-96783753
25	MAX	chr2:96783663-96783809	HepG2	liver:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
26	MYC	chr2:96783527-96783891	K562	blood:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
27	POLR2A	chr2:96783542-96783816	HCT-116	colon:	n/a	n/a
28	MAX	chr2:96783489-96783876	H1-hESC	embryonic stem cell:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
29	CTCF	chr2:96783580-96783730	RPTEC	kidney:	n/a	chr2:96783645-96783653
30	MAX	chr2:96783590-96783767	GM12878	blood:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
31	CTCF	chr2:96783580-96783730	GM12873	blood:	n/a	chr2:96783645-96783653
32	CTCF	chr2:96783600-96783750	GM12872	blood:	n/a	chr2:96783645-96783653
33	CTBP2	chr2:96781457-96783861	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr2:96783520-96783874	K562	blood:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
35	MAX	chr2:96783496-96783841	H1-hESC	embryonic stem cell:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
36	CTCF	chr2:96783580-96783730	HEK293	kidney:	n/a	chr2:96783645-96783653
37	MYC	chr2:96783655-96783808	K562	blood:	n/a	chr2:96783688-96783699 chr2:96783688-96783698 chr2:96783689-96783698 chr2:96783689-96783698 chr2:96783687-96783700 chr2:96783689-96783699 chr2:96783690-96783697 chr2:96783687-96783700 chr2:96783688-96783699 chr2:96783687-96783700 chr2:96783687-96783700
38	CTCF	chr2:96783640-96783790	NHEK	skin:	n/a	chr2:96783645-96783653 chr2:96783740-96783753
39	RAD21	chr2:96783500-96783901	H1-hESC	embryonic stem cell:	n/a	n/a
40	USF2	chr2:96783607-96783807	GM12878	blood:	n/a	chr2:96783688-96783699
41	CTCF	chr2:96783540-96783690	HRPEpiC	eye:	n/a	chr2:96783645-96783653
42	CTCF	chr2:96783650-96783794	A549	lung:	n/a	chr2:96783740-96783753
43	CTCF	chr2:96783640-96783790	NB4	blood:	n/a	chr2:96783645-96783653 chr2:96783740-96783753
44	POLR2A	chr2:96782821-96789510	GM12891	blood:	n/a	n/a
45	E2F6	chr2:96783563-96783782	K562	blood:	n/a	n/a
46	CTCF	chr2:96783600-96783750	K562	blood:	n/a	chr2:96783645-96783653
47	CTCF	chr2:96783465-96783993	MCF-7	breast:	n/a	chr2:96783645-96783653 chr2:96783740-96783753
48	CTCF	chr2:96783620-96783770	GM12872	blood:	n/a	chr2:96783645-96783653 chr2:96783740-96783753
49	RAD21	chr2:96783582-96783876	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr2:96783610-96783818	GM12892	blood:	n/a	chr2:96783645-96783653 chr2:96783740-96783753

No.	Distal block	Cell Line	Cell type
1	chr2:96783327..96784989-chr2:96786453..96788374,2	K562	blood:
2	chr2:96781378..96786213-chr2:96808688..96812498,6	MCF-7	breast:
3	chr2:96656483..96658831-chr2:96781728..96784486,2	K562	blood:
4	chr2:96782213..96784499-chr2:96930229..96931847,2	MCF-7	breast:
5	chr2:96781942..96784647-chr2:96809826..96814461,4	MCF-7	breast:
6	chr2:96782361..96784893-chr2:96801744..96803597,2	MCF-7	breast:

Variant related genes	Relation type
ADRA2B	TF binding region
ENSG00000158050	Chromatin interaction
ENSG00000135956	Chromatin interaction
ENSG00000228873	Chromatin interaction
ENSG00000188886	Chromatin interaction
ENSG00000174501	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10179191	1.00[AFR][1000 genomes]
rs10209653	1.00[AFR][1000 genomes]
rs10209990	1.00[AFR][1000 genomes]
rs12328961	0.83[AFR][1000 genomes]
rs13401470	1.00[AFR][1000 genomes]
rs13413120	1.00[AFR][1000 genomes]
rs13415055	0.86[AFR][1000 genomes]
rs13426632	1.00[AFR][1000 genomes]
rs28932481	1.00[AFR][1000 genomes]

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	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS 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 target site	46 gene(s)	inside rSNPs	diseases
4	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv1004129	chr2:96738585-96825363	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
7	nsv1000049	chr2:96740430-96796312	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
9	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
10	nsv874675	chr2:96741944-96825363	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv874676	chr2:96753149-96825363	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	esv1819594	chr2:96755038-96833480	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
13	nsv1008495	chr2:96755070-96825363	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1002392	chr2:96756289-96815149	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
15	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv1004977	chr2:96757107-96819188	Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
17	nsv1015000	chr2:96757107-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
19	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
20	nsv1007132	chr2:96767204-96829489	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
21	nsv2834	chr2:96772925-96785110	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
22	nsv874678	chr2:96777340-96786411	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96782800-96783800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:96783000-96783800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:96783000-96784000	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr2:96783200-96783800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr2:96783200-96783800	Enhancers	Esophagus	oesophagus
6	chr2:96783200-96783800	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr2:96783200-96783800	Enhancers	Gastric	stomach
8	chr2:96783200-96784000	Bivalent Enhancer	Fetal Thymus	thymus
9	chr2:96783200-96784000	Weak transcription	Psoas Muscle	Psoas
10	chr2:96783200-96784000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
11	chr2:96783200-96784600	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr2:96783200-96784600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr2:96783200-96784600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr2:96783200-96785200	Weak transcription	HSMM	muscle
15	chr2:96783400-96783800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:96783400-96783800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr2:96783400-96783800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:96783400-96783800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:96783400-96783800	Enhancers	Spleen	Spleen
20	chr2:96783400-96783800	Enhancers	HMEC	breast
21	chr2:96783400-96784000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:96783400-96784000	Bivalent Enhancer	Brain Germinal Matrix	brain
23	chr2:96783400-96784000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:96783400-96784200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:96783400-96784800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr2:96783400-96785600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:96783400-96785800	Weak transcription	Primary B cells from cord blood	blood
28	chr2:96783400-96787800	Weak transcription	Right Atrium	heart
29	chr2:96783600-96783800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:96783600-96783800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:96783600-96783800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:96783600-96784000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:96783600-96785800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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