Variant report

Variant	rs7156648
Chromosome Location	chr14:55898399-55898400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55873181..55876141-chr14:55896106..55898564,2	K562	blood:
2	chr14:55736801..55739826-chr14:55895387..55899212,3	K562	blood:
3	chr14:55877097..55882120-chr14:55890369..55898508,8	MCF-7	breast:
4	chr14:55736801..55739686-chr14:55896880..55899657,2	K562	blood:

Variant related genes	Relation type
ENSG00000178974	Chromatin interaction
ENSG00000239199	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000258413	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10135812	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10146352	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146485	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10146736	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848576	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11848826	0.95[ASN][1000 genomes]
rs12886310	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12896353	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1953739	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.93[ASN][1000 genomes]
rs28473512	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28539353	0.82[ASN][1000 genomes]
rs35231647	0.82[ASN][1000 genomes]
rs4470077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7156493	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs7160191	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7160543	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8003684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003863	0.82[ASN][1000 genomes]
rs8004015	0.82[ASN][1000 genomes]
rs8004299	0.82[ASN][1000 genomes]
rs8005636	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs8006052	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8016239	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8016831	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	n/a
3	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7156648	FBXO34	cis	cerebellum	SCAN
rs7156648	PTGER2	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55890600-55900600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:55896800-55901000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:55896800-55901400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:55897000-55899000	Weak transcription	Fetal Heart	heart
5	chr14:55897000-55899400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr14:55897000-55899400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:55897000-55900000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:55897000-55901000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:55897000-55901000	Weak transcription	Hela-S3	cervix
10	chr14:55897000-55901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:55897000-55901400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:55897000-55901400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:55897000-55901400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:55897200-55899600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:55897400-55899800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:55897400-55900000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:55897400-55900000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:55897400-55900200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:55897400-55900200	Weak transcription	Fetal Thymus	thymus
20	chr14:55897600-55899200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:55897600-55899400	Weak transcription	Primary T cells from cord blood	blood
22	chr14:55897600-55899400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:55897800-55907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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