Variant report

Variant	rs1442141
Chromosome Location	chr4:90815688-90815689
allele	G/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	POLR2A	chr4:90815569-90817326	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr4:90815635-90816795	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
MMRN1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1442137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17016279	0.82[EUR][1000 genomes]
rs17016316	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17016326	1.00[AFR][1000 genomes]
rs59718120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62304971	0.82[EUR][1000 genomes]
rs62304974	0.82[EUR][1000 genomes]
rs7676702	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv997700	chr4:90791866-90920021	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830005	chr4:90799398-90963420	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90811000-90815800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr4:90814200-90816000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr4:90815200-90815800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:90815200-90815800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:90815200-90815800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr4:90815200-90816000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:90815200-90816400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:90815400-90815800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:90815400-90815800	Enhancers	GM12878-XiMat	blood
10	chr4:90815400-90816000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr4:90815400-90816600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr4:90815400-90816600	Flanking Active TSS	HUVEC	blood vessel
13	chr4:90815400-90818200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:90815600-90815800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:90815600-90815800	Enhancers	Fetal Thymus	thymus
16	chr4:90815600-90815800	Enhancers	Thymus	Thymus
17	chr4:90815600-90815800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr4:90815600-90816000	Enhancers	Primary B cells from peripheral blood	blood
19	chr4:90815600-90816000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:90815600-90816000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:90815600-90816000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:90815600-90816400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr4:90815600-90816400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr4:90815600-90816800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr4:90815600-90816800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:90815600-90816800	Enhancers	Adipose Nuclei	Adipose
27	chr4:90815600-90817400	Flanking Active TSS	Dnd41	blood
28	chr4:90815600-90817800	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr4:90815600-90817800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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