Variant report

Variant	rs6751280
Chromosome Location	chr2:210526007-210526008
allele	A/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	YY1	chr2:210525960-210526337	SK-N-SH_RA	brain:	n/a	n/a
2	RAD21	chr2:210525976-210526386	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr2:210525872-210526646	H1-neurons	neurons:	n/a	n/a
4	REST	chr2:210525993-210526496	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr2:210525806-210526617	PFSK-1	brain:	n/a	n/a
6	EP300	chr2:210525996-210526222	SK-N-SH_RA	brain:	n/a	n/a
7	POLR2A	chr2:210525937-210526572	PFSK-1	brain:	n/a	n/a
8	EP300	chr2:210525653-210528975	SK-N-SH	brain:	n/a	chr2:210527917-210527931 chr2:210527566-210527580 chr2:210527561-210527575 chr2:210528149-210528158 chr2:210525863-210525877 chr2:210527563-210527577
9	TAF1	chr2:210525979-210526447	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr2:210525868-210526531	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr2:210525975-210526492	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr2:210525941-210526253	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr2:210525641-210528566	H1-neurons	neurons:	n/a	n/a
14	YY1	chr2:210525968-210526334	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr2:210525951-210526455	SK-N-SH_RA	brain:	n/a	n/a
16	RFX5	chr2:210525643-210527315	SK-N-SH	brain:	n/a	chr2:210526137-210526152 chr2:210526137-210526152 chr2:210526138-210526147 chr2:210526136-210526153 chr2:210526137-210526152
17	POLR2A	chr2:210525859-210526545	H1-neurons	neurons:	n/a	n/a
18	YY1	chr2:210525988-210526534	H1-hESC	embryonic stem cell:	n/a	n/a
19	MXI1	chr2:210525659-210528999	SK-N-SH	brain:	n/a	chr2:210526138-210526153
20	TEAD4	chr2:210525954-210526354	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
MAP2	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10048829	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10174634	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs10179388	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs10189166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10189639	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10196953	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10197252	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11897507	0.81[EUR][1000 genomes]
rs11899684	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12328955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12619473	1.00[CEU][hapmap]
rs13383482	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13384979	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13392785	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13394033	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13399574	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13428159	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509472	1.00[CEU][hapmap]
rs16843177	1.00[CEU][hapmap]
rs16843513	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16843555	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17317100	1.00[CEU][hapmap]
rs17745550	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs288095	1.00[CEU][hapmap]
rs4392185	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55677311	1.00[EUR][1000 genomes]
rs55888621	1.00[EUR][1000 genomes]
rs6435535	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716675	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73072898	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73074703	1.00[EUR][1000 genomes]
rs73074704	1.00[EUR][1000 genomes]
rs73074711	0.90[AFR][1000 genomes]
rs73074714	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73074716	1.00[EUR][1000 genomes]
rs73074718	1.00[EUR][1000 genomes]
rs73074722	1.00[EUR][1000 genomes]
rs73074726	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73074728	1.00[EUR][1000 genomes]
rs7577387	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7603804	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs877782	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754281	chr2:210484777-210543711	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210508000-210527800	Weak transcription	HUVEC	blood vessel
2	chr2:210508400-210527800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:210514000-210528000	Weak transcription	Ovary	ovary
4	chr2:210516400-210530200	Weak transcription	Pancreas	Pancrea
5	chr2:210518200-210543200	Weak transcription	Aorta	Aorta
6	chr2:210525000-210526200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:210525600-210526600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:210525600-210528600	Active TSS	Fetal Brain Female	brain
9	chr2:210525800-210526200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:210525800-210526200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:210525800-210526200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr2:210525800-210526600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:210525800-210526800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:210525800-210527000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:210525800-210528600	Active TSS	Brain Anterior Caudate	brain
16	chr2:210525800-210528600	Active TSS	Brain Hippocampus Middle	brain
17	chr2:210525800-210528600	Enhancers	NH-A	brain
18	chr2:210526000-210526200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:210526000-210526200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr2:210526000-210526200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:210526000-210526400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:210526000-210526400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:210526000-210526400	Active TSS	Brain Substantia Nigra	brain
24	chr2:210526000-210526400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:210526000-210526600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:210526000-210527000	Active TSS	Brain Angular Gyrus	brain
27	chr2:210526000-210527200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:210526000-210527200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:210526000-210527800	Active TSS	Brain Germinal Matrix	brain
30	chr2:210526000-210528000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:210526000-210528400	Active TSS	Brain Cingulate Gyrus	brain
32	chr2:210526000-210528800	Active TSS	Fetal Brain Male	brain

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