Variant report

Variant	rs4512110
Chromosome Location	chr5:74756221-74756222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74753229..74754839-chr5:74755148..74758107,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1018119	0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs16872526	0.93[ASN][1000 genomes]
rs16872536	0.96[GIH][hapmap];1.00[JPT][hapmap]
rs16872589	1.00[JPT][hapmap]
rs16872635	1.00[JPT][hapmap]
rs1909720	1.00[JPT][hapmap]
rs1988728	0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs2303152	0.87[GIH][hapmap];1.00[JPT][hapmap]
rs3857388	1.00[JPT][hapmap]
rs3895886	1.00[JPT][hapmap]
rs3925086	0.81[EUR][1000 genomes]
rs5744566	0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs5744567	0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs5744578	1.00[JPT][hapmap]
rs5744591	1.00[JPT][hapmap]
rs5744612	0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs5744658	0.86[ASN][1000 genomes]
rs5744661	0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs5744722	0.86[ASN][1000 genomes]
rs57566899	0.81[EUR][1000 genomes]
rs58780510	0.90[ASN][1000 genomes]
rs61001560	0.81[EUR][1000 genomes]
rs61175242	0.81[EUR][1000 genomes]
rs61678717	0.97[ASN][1000 genomes]
rs6878576	1.00[JPT][hapmap]
rs73763098	0.93[ASN][1000 genomes]
rs73764905	0.81[EUR][1000 genomes]
rs73764910	0.81[EUR][1000 genomes]
rs73764914	0.81[EUR][1000 genomes]
rs73764920	0.81[EUR][1000 genomes]
rs963004	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4512110	COL4A3BP	cis	cerebellum	SCAN
rs4512110	IQGAP2	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
2	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74709600-74760200	Weak transcription	Gastric	stomach
4	chr5:74730400-74757400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:74731800-74757400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:74732000-74756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:74732000-74760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:74738600-74756600	Weak transcription	Fetal Kidney	kidney
10	chr5:74740000-74761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:74741200-74760200	Weak transcription	Left Ventricle	heart
12	chr5:74742400-74794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:74742600-74764200	Weak transcription	HSMM	muscle
14	chr5:74743000-74757000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:74743000-74760000	Weak transcription	Lung	lung
16	chr5:74743000-74761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:74743000-74761600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:74743000-74763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:74743000-74764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:74743200-74758000	Weak transcription	Fetal Stomach	stomach
21	chr5:74743200-74764200	Weak transcription	Aorta	Aorta
22	chr5:74743800-74761400	Weak transcription	Fetal Thymus	thymus
23	chr5:74743800-74761400	Weak transcription	Thymus	Thymus
24	chr5:74743800-74761800	Weak transcription	K562	blood
25	chr5:74744000-74759600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:74746200-74760000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:74746200-74760200	Weak transcription	Spleen	Spleen
28	chr5:74746200-74761000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:74746400-74759600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:74746600-74759400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:74746800-74756400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:74746800-74756400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:74746800-74756800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:74747200-74756400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:74747200-74761200	Weak transcription	Primary T cells from cord blood	blood
36	chr5:74747600-74756600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr5:74748200-74756400	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:74748200-74756400	Weak transcription	Fetal Brain Female	brain
39	chr5:74748200-74761400	Weak transcription	Right Ventricle	heart
40	chr5:74748400-74759600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:74748600-74770400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:74748800-74761200	Weak transcription	Fetal Heart	heart
43	chr5:74750600-74763600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:74750800-74756600	Weak transcription	Primary B cells from cord blood	blood
45	chr5:74750800-74757000	Weak transcription	NHLF	lung
46	chr5:74751000-74756400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:74751000-74758200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:74751000-74759400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:74751000-74759600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:74751000-74761400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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