Variant report

Variant	rs6756208
Chromosome Location	chr2:96832699-96832700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96818239..96820649-chr2:96830872..96833353,2	K562	blood:
2	chr2:96820286..96828646-chr2:96829192..96834775,11	K562	blood:
3	chr2:96804543..96806580-chr2:96830322..96833179,2	MCF-7	breast:
4	chr2:96826633..96828646-chr2:96831570..96833893,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12617019	0.83[CEU][hapmap]
rs17119615	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2276650	0.83[CEU][hapmap]
rs3852673	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4371393	0.83[CEU][hapmap]
rs4592891	0.91[ASN][1000 genomes]
rs4826	0.83[CEU][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs56088823	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57476471	0.93[ASN][1000 genomes]
rs59082429	0.93[ASN][1000 genomes]
rs59664047	0.98[ASN][1000 genomes]
rs60409279	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61624166	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62152966	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62152972	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62153011	0.98[ASN][1000 genomes]
rs62153018	0.98[ASN][1000 genomes]
rs62153022	0.98[ASN][1000 genomes]
rs6576968	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72825854	0.98[ASN][1000 genomes]
rs72825856	0.98[ASN][1000 genomes]
rs72825864	0.98[ASN][1000 genomes]
rs73958180	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7579709	0.83[CEU][hapmap]
rs7580178	0.93[ASN][1000 genomes]
rs997547	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs997548	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6756208	AC008268.2	cis	Artery Tibial	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96814400-96840000	Weak transcription	Right Atrium	heart
2	chr2:96828200-96832800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:96828200-96833400	Weak transcription	Stomach Mucosa	stomach
4	chr2:96828200-96850000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:96829800-96833800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:96830200-96833200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:96830200-96833200	Weak transcription	HSMM	muscle
8	chr2:96830200-96833200	Weak transcription	HSMMtube	muscle
9	chr2:96830600-96833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:96830600-96833800	Weak transcription	NH-A	brain
11	chr2:96830600-96834000	Enhancers	Fetal Thymus	thymus
12	chr2:96830600-96850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:96830800-96833400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:96831000-96833400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:96831000-96833400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:96831000-96837600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:96831000-96840000	Weak transcription	Spleen	Spleen
18	chr2:96831200-96833600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:96831200-96833600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:96831400-96839800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:96831400-96840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:96831600-96833000	Weak transcription	GM12878-XiMat	blood
23	chr2:96831600-96834000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:96831800-96832800	Weak transcription	Thymus	Thymus
25	chr2:96831800-96839800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:96832000-96832800	Weak transcription	Primary T cells fromperipheralblood	blood

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