Variant report

Variant	rs55933640
Chromosome Location	chr2:98328721-98328722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr2:98328640-98328865	K562	blood:	n/a	n/a
2	TRIM28	chr2:98328531-98328928	K562	blood:	n/a	n/a
3	TEAD4	chr2:98328474-98328972	K562	blood:	n/a	n/a
4	RCOR1	chr2:98328550-98328862	K562	blood:	n/a	n/a
5	STAT5A	chr2:98328547-98328986	K562	blood:	n/a	n/a
6	CEBPB	chr2:98328625-98328933	K562	blood:	n/a	n/a
7	TEAD4	chr2:98328569-98328848	K562	blood:	n/a	n/a
8	POLR2A	chr2:98328487-98328858	K562	blood:	n/a	n/a
9	NR2F2	chr2:98328561-98328860	K562	blood:	n/a	n/a
10	MAZ	chr2:98328474-98328868	K562	blood:	n/a	n/a
11	GATA2	chr2:98328451-98328918	K562	blood:	n/a	n/a
12	TAL1	chr2:98328640-98328875	K562	blood:	n/a	n/a
13	CEBPD	chr2:98328509-98328879	K562	blood:	n/a	n/a
14	EP300	chr2:98328565-98328885	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:98326491..98329371-chr2:98358007..98360980,3	MCF-7	breast:
2	chr2:98326581..98329549-chr2:98337971..98340144,2	MCF-7	breast:
3	chr2:98327141..98329201-chr2:98354402..98356223,2	K562	blood:

No data

Variant related genes	Relation type
ZAP70	TF binding region

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12999616	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17028771	1.00[ASN][1000 genomes]
rs17695937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071038	1.00[ASN][1000 genomes]
rs2290123	1.00[ASN][1000 genomes]
rs2290126	0.94[ASN][1000 genomes]
rs2290127	1.00[ASN][1000 genomes]
rs34459720	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35321033	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35530168	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35958372	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55757705	1.00[ASN][1000 genomes]
rs55766309	1.00[ASN][1000 genomes]
rs56035334	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233535	1.00[ASN][1000 genomes]
rs56717024	1.00[ASN][1000 genomes]
rs58321192	0.94[ASN][1000 genomes]
rs58383658	0.86[ASN][1000 genomes]
rs59021370	0.94[ASN][1000 genomes]
rs59060391	0.94[ASN][1000 genomes]
rs59168350	1.00[ASN][1000 genomes]
rs62157581	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542982	1.00[ASN][1000 genomes]
rs6753752	1.00[ASN][1000 genomes]
rs72951131	0.94[ASN][1000 genomes]
rs7425883	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98324600-98329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:98324600-98329400	Enhancers	K562	blood
3	chr2:98325400-98329000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:98325400-98329400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:98326000-98329400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr2:98326200-98329000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:98326200-98329000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:98326200-98329000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:98326200-98329000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:98326200-98329000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr2:98326200-98329200	Enhancers	Primary T cells from cord blood	blood
12	chr2:98326200-98329200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:98326200-98329200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:98326200-98329200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:98326200-98329200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:98326200-98329200	Enhancers	Fetal Thymus	thymus
17	chr2:98326200-98329400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:98326200-98329400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:98326200-98333000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:98326400-98329000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:98326600-98329000	Enhancers	Dnd41	blood
22	chr2:98326600-98329600	Enhancers	Thymus	Thymus
23	chr2:98326800-98329000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:98326800-98329400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:98327000-98329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:98327000-98330800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:98327600-98328800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:98327600-98329000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:98327600-98330200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:98327800-98329200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:98328000-98329000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:98328200-98329400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:98328200-98330000	Enhancers	Right Ventricle	heart
34	chr2:98328400-98328800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:98328400-98328800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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