Variant report

Variant	rs7588478
Chromosome Location	chr2:96989500-96989501
allele	A/G
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	NFIC	chr2:96989492-96990332	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:96967785..96972096-chr2:96987875..96991841,5	K562	blood:
2	chr16:68771021..68772748-chr2:96988068..96990844,2	MCF-7	breast:
3	chr2:96985829..96988106-chr2:96989038..96991454,2	MCF-7	breast:
4	chr2:96954818..96956480-chr2:96987207..96989658,2	K562	blood:

Variant related genes	Relation type
ITPRIPL1	TF binding region
ENSG00000230747	TF binding region
ENSG00000039068	Chromatin interaction
ENSG00000230747	Chromatin interaction
ENSG00000144028	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11900551	1.00[EUR][1000 genomes]
rs11900808	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11903257	1.00[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96987800-96990800	Weak transcription	Gastric	stomach
2	chr2:96988000-96990400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:96988000-96990400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:96988000-96990600	Weak transcription	Lung	lung
5	chr2:96988000-96990600	Weak transcription	Pancreas	Pancrea
6	chr2:96988000-96990600	Weak transcription	Right Atrium	heart
7	chr2:96988000-96990600	Weak transcription	Right Ventricle	heart
8	chr2:96988000-96990600	Weak transcription	Spleen	Spleen
9	chr2:96988000-96990800	Weak transcription	Aorta	Aorta
10	chr2:96988200-96989800	Enhancers	GM12878-XiMat	blood
11	chr2:96988200-96990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:96988200-96990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:96988200-96990200	Weak transcription	Primary T cells from cord blood	blood
14	chr2:96988200-96990200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:96988200-96990200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:96988200-96990200	Weak transcription	Thymus	Thymus
17	chr2:96988200-96990200	Weak transcription	K562	blood
18	chr2:96988200-96990400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:96988200-96990400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:96988200-96990400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:96988200-96990400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:96988200-96990600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:96988200-96990600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:96988400-96990400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:96988600-96990000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:96988600-96990000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:96988600-96990200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:96988600-96990400	Weak transcription	Primary B cells from cord blood	blood
29	chr2:96988800-96990000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:96988800-96990200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:96988800-96990200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:96988800-96990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:96988800-96990200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:96989000-96989800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:96989000-96990200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:96989000-96990200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:96989200-96990200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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