Variant report

Variant	rs4146035
Chromosome Location	chr7:150152520-150152521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150126141..150128325-chr7:150150954..150153217,2	K562	blood:
2	chr7:150145876..150148161-chr7:150149226..150153829,5	K562	blood:

Variant related genes	Relation type
ENSG00000171115	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1113485	0.82[GIH][hapmap]
rs11769211	0.82[GIH][hapmap];0.80[MEX][hapmap]
rs2140595	0.85[GIH][hapmap];0.80[MEX][hapmap]
rs2373748	0.85[GIH][hapmap];0.80[MEX][hapmap]
rs2373749	0.82[GIH][hapmap];0.80[MEX][hapmap]
rs4302764	0.82[ASN][1000 genomes]
rs6947973	0.85[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription 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	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4146035	DPP6	cis	parietal	SCAN
rs4146035	GIMAP8	Cis_1M	lymphoblastoid	RTeQTL
rs4146035	ZNF425	cis	cerebellum	SCAN
rs4146035	GIMAP4	cis	parietal	SCAN
rs4146035	GIMAP8	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150149400-150153200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:150150200-150153400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:150150200-150159000	Weak transcription	Thymus	Thymus
4	chr7:150150600-150152600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:150150600-150152600	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:150150800-150156800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:150151200-150155000	Genic enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:150151200-150162000	Weak transcription	Right Ventricle	heart
9	chr7:150151400-150152600	Weak transcription	Colonic Mucosa	Colon
10	chr7:150151400-150152800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:150151400-150162000	Weak transcription	HUVEC	blood vessel
12	chr7:150151600-150152800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:150151600-150156400	Weak transcription	Liver	Liver
14	chr7:150151600-150157000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:150151600-150157600	Weak transcription	Left Ventricle	heart
16	chr7:150151800-150152800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:150151800-150153000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:150151800-150153000	Weak transcription	Adipose Nuclei	Adipose
19	chr7:150151800-150153200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:150151800-150153400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:150151800-150153400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:150151800-150153400	Weak transcription	Lung	lung
23	chr7:150151800-150153800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:150151800-150154800	Weak transcription	Spleen	Spleen
25	chr7:150152000-150152800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:150152000-150154200	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr7:150152200-150153000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:150152200-150155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:150152400-150152600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:150152400-150153000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:150152400-150153600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:150152400-150153800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:150152400-150153800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood

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