Variant report

Variant	rs28932481
Chromosome Location	chr2:96783298-96783299
allele	A/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	CTCF	chr2:96783280-96783430	AoAF	blood vessel:	n/a	n/a
2	CTCF	chr2:96783280-96783430	AG09319	gingival:	n/a	n/a
3	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
4	RAD21	chr2:96782515-96783323	SK-N-SH	brain:	n/a	chr2:96782907-96782921 chr2:96782901-96782920 chr2:96782905-96782919 chr2:96782905-96782915
5	CTBP2	chr2:96781457-96783861	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:96782821-96789510	GM12891	blood:	n/a	n/a
7	CTCF	chr2:96783280-96783430	GM06990	blood:	n/a	n/a
8	CTCF	chr2:96783260-96783410	AG04449	skin:	n/a	n/a
9	CTCF	chr2:96782400-96784009	SK-N-SH	brain:	n/a	chr2:96782905-96782918 chr2:96783645-96783653 chr2:96782904-96782920 chr2:96782906-96782916 chr2:96782903-96782921 chr2:96783740-96783753
10	POLR2A	chr2:96782808-96789602	GM12891	blood:	n/a	n/a
11	CTCF	chr2:96783220-96783370	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr2:96783260-96783410	K562	blood:	n/a	n/a
13	SMC3	chr2:96782204-96783363	SK-N-SH	brain:	n/a	chr2:96782905-96782915 chr2:96782905-96782919
14	MAX	chr2:96783279-96784000	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
15	CTCF	chr2:96783180-96783330	AG10803	skin:	n/a	n/a
16	CTCF	chr2:96783200-96783350	HPAF	blood vessel:	n/a	n/a
17	RCOR1	chr2:96782596-96783318	GM12878	blood:	n/a	n/a
18	MAX	chr2:96782051-96784034	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 chr2:96782717-96782726

No.	Distal block	Cell Line	Cell type
1	chr2:96753566..96754241-chr2:96782628..96783306,2	K562	blood:
2	chr2:96688443..96689089-chr2:96782413..96783451,3	MCF-7	breast:
3	chr2:96781378..96786213-chr2:96808688..96812498,6	MCF-7	breast:
4	chr2:96656483..96658831-chr2:96781728..96784486,2	K562	blood:
5	chr2:96782213..96784499-chr2:96930229..96931847,2	MCF-7	breast:
6	chr2:96781942..96784647-chr2:96809826..96814461,4	MCF-7	breast:
7	chr2:96782361..96784893-chr2:96801744..96803597,2	MCF-7	breast:
8	chr2:96781026..96783523-chr2:96872750..96874386,2	MCF-7	breast:

Variant related genes	Relation type
ADRA2B	TF binding region
ENSG00000158050	Chromatin interaction
ENSG00000228873	Chromatin interaction
ENSG00000188886	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000135956	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]
rs10180765	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]

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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96781600-96783400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr2:96781800-96783400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:96781800-96783400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:96781800-96783400	Active TSS	Brain Anterior Caudate	brain
5	chr2:96781800-96783400	Bivalent Enhancer	Fetal Brain Male	brain
6	chr2:96781800-96783400	Bivalent/Poised TSS	Thymus	Thymus
7	chr2:96781800-96783600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:96782400-96783400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr2:96782400-96783600	Bivalent Enhancer	Fetal Lung	lung
10	chr2:96782600-96783400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:96782600-96783600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:96782800-96783400	Enhancers	Lung	lung
13	chr2:96782800-96783400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:96782800-96783400	Bivalent Enhancer	HUVEC	blood vessel
15	chr2:96782800-96783600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr2:96782800-96783800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr2:96783000-96783400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
26	chr2:96783000-96783400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr2:96783000-96783400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr2:96783000-96783400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr2:96783000-96783400	Enhancers	Fetal Heart	heart
34	chr2:96783000-96783400	Bivalent Enhancer	Fetal Kidney	kidney
35	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr2:96783000-96783400	Enhancers	Left Ventricle	heart
37	chr2:96783000-96783400	Enhancers	Right Atrium	heart
38	chr2:96783000-96783400	Flanking Active TSS	Spleen	Spleen
39	chr2:96783000-96783400	Flanking Active TSS	HMEC	breast
40	chr2:96783000-96783400	Flanking Active TSS	K562	blood
41	chr2:96783000-96783400	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr2:96783000-96783600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr2:96783000-96783600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr2:96783000-96783600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:96783000-96783600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:96783000-96783600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:96783000-96783600	Bivalent Enhancer	Placenta	Placenta
48	chr2:96783000-96783600	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr2:96783000-96783800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:96783000-96784000	Bivalent Enhancer	Stomach Mucosa	stomach

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