Variant report

Variant	rs735551
Chromosome Location	chr2:234837221-234837222
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:234837192-234837603	A549	lung:	n/a	n/a
2	CTCF	chr2:234837130-234837768	HCT-116	colon:	n/a	n/a
3	RAD21	chr2:234837207-234837543	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr2:234837189-234837609	A549	lung:	n/a	n/a
5	RAD21	chr2:234837167-234837679	ECC-1	luminal epithelium:	n/a	n/a
6	SMC3	chr2:234837118-234838146	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr2:234837189-234837588	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:234837158-234837672	HCT-116	colon:	n/a	n/a
9	CTCF	chr2:234837020-234837860	A549	lung:	n/a	n/a
10	RAD21	chr2:234837125-234837682	A549	lung:	n/a	n/a
11	RAD21	chr2:234837184-234837644	HCT-116	colon:	n/a	n/a
12	RAD21	chr2:234837069-234837794	SK-N-SH	brain:	n/a	n/a
13	RAD21	chr2:234837147-234837690	HCT-116	colon:	n/a	n/a
14	RAD21	chr2:234837169-234837560	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr2:234837220-234837370	RPTEC	kidney:	n/a	n/a
16	CTCF	chr2:234837074-234838164	SK-N-SH	brain:	n/a	n/a
17	RAD21	chr2:234837196-234837649	HepG2	liver:	n/a	n/a
18	CTCF	chr2:234837220-234837370	WI-38	lung:	n/a	n/a
19	CTCF	chr2:234837192-234837546	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:234357015..234358200-chr2:234837198..234838061,3	MCF-7	breast:
2	chr2:234835606..234837772-chr2:234955390..234957030,2	K562	blood:
3	chr2:234357304..234357929-chr2:234836996..234837769,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRPM8	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1003757	0.86[CEU][hapmap]
rs10170647	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10180847	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10203291	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10490013	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10519356	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10803664	1.00[CEU][hapmap]
rs11562975	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11563212	1.00[CEU][hapmap]
rs11902618	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12466401	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12476852	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17863847	0.89[EUR][1000 genomes]
rs17863851	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17864744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108806	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2108807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4497869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs4663344	1.00[CEU][hapmap]
rs4663345	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4663985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4663987	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663991	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs62192338	0.87[EUR][1000 genomes]
rs6712540	1.00[CEU][hapmap]
rs73118767	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs735552	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[EUR][1000 genomes]
rs7569987	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7570755	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7577157	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7595960	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234834400-234838000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234836200-234838000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:234836200-234838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:234837000-234838400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:234837000-234838600	Enhancers	A549	lung
6	chr2:234837200-234837400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:234837200-234838000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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