Variant report

Variant	rs2332836
Chromosome Location	chr4:175174575-175174576
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	chr4:175172359..175176044-chr4:175180027..175182718,3	K562	blood:
2	chr4:175173151..175176045-chr4:175203029..175205043,2	K562	blood:

Variant related genes	Relation type
ENSG00000164118	Chromatin interaction
ENSG00000164117	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10034021	0.82[CEU][hapmap]
rs10520275	0.82[CEU][hapmap]
rs10565	0.82[CEU][hapmap]
rs11555602	1.00[JPT][hapmap]
rs11929798	0.96[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs11933187	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs11940726	0.84[EUR][1000 genomes]
rs11940758	0.85[EUR][1000 genomes]
rs11942947	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11944262	0.87[MEX][hapmap]
rs11947136	0.91[EUR][1000 genomes]
rs13101580	0.92[CEU][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs13124698	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13128257	0.82[CEU][hapmap]
rs14278	1.00[JPT][hapmap]
rs1508222	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17060409	1.00[JPT][hapmap]
rs17060445	1.00[JPT][hapmap]
rs17291087	0.82[CEU][hapmap]
rs17291128	0.82[CEU][hapmap]
rs17291408	0.82[CEU][hapmap]
rs17357120	0.96[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1876515	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34407356	0.91[EUR][1000 genomes]
rs34888351	0.82[EUR][1000 genomes]
rs35332594	0.90[EUR][1000 genomes]
rs35622584	0.86[EUR][1000 genomes]
rs4695915	0.81[CEU][hapmap]
rs4695919	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4695921	0.83[EUR][1000 genomes]
rs4695922	0.84[CEU][hapmap]
rs6553777	0.82[CEU][hapmap]
rs6824643	0.82[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap]
rs6851312	0.82[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap]
rs7661236	0.81[CEU][hapmap]
rs7669484	0.82[CEU][hapmap]
rs7681841	1.00[JPT][hapmap]
rs7692518	1.00[JPT][hapmap]
rs7697587	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2332836	KIAA1712	cis	parietal	SCAN
rs2332836	KIAA1712	Cis_1M	lymphoblastoid	RTeQTL
rs2332836	KIAA1712	cis	multi-tissue	Pritchard
rs2332836	KIAA1712	cis	cerebellum	SCAN
rs2332836	CEP44	cis	Thyroid	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
2	chr4:175151400-175192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:175151800-175181600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:175152600-175176400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:175153200-175174600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:175153200-175184000	Weak transcription	Lung	lung
7	chr4:175153400-175191600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
9	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
10	chr4:175154400-175186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:175154400-175202400	Weak transcription	Gastric	stomach
12	chr4:175155400-175185000	Weak transcription	Spleen	Spleen
13	chr4:175155600-175177000	Weak transcription	Fetal Kidney	kidney
14	chr4:175155600-175178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:175155800-175186600	Weak transcription	Fetal Brain Female	brain
16	chr4:175156600-175181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:175156800-175177000	Weak transcription	Brain Substantia Nigra	brain
18	chr4:175156800-175183400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:175157000-175179600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:175157000-175181400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:175157000-175184000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:175158800-175176200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:175158800-175178600	Weak transcription	Left Ventricle	heart
24	chr4:175158800-175202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:175159000-175177000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:175159000-175177000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:175159000-175178600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:175159000-175178600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:175159000-175180400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:175159000-175184000	Weak transcription	Ovary	ovary
31	chr4:175159000-175184200	Weak transcription	Fetal Lung	lung
32	chr4:175159600-175178400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:175159800-175199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:175160200-175177000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:175160400-175176800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:175160400-175178600	Weak transcription	Fetal Intestine Large	intestine
37	chr4:175160800-175176800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:175161000-175178600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:175161000-175192400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:175161200-175177200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:175161200-175178600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr4:175161600-175177800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:175161600-175178400	Weak transcription	Liver	Liver
44	chr4:175162200-175177000	Weak transcription	Adipose Nuclei	Adipose
45	chr4:175162200-175178400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:175162400-175174600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:175162400-175174800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:175162400-175176200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:175162400-175177000	Weak transcription	Brain Anterior Caudate	brain
50	chr4:175162400-175178400	Weak transcription	Fetal Thymus	thymus

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