Variant report

Variant	rs11947136
Chromosome Location	chr4:175213865-175213866
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:175202914..175205103-chr4:175213691..175216002,2	K562	blood:
2	chr4:175207634..175209393-chr4:175212176..175214357,2	MCF-7	breast:
3	chr4:175138901..175140871-chr4:175212550..175215398,2	K562	blood:
4	chr4:175207633..175211552-chr4:175211920..175215322,4	K562	blood:
5	chr4:175205425..175207509-chr4:175213395..175216354,2	K562	blood:

Variant related genes	Relation type
ENSG00000164118	Chromatin interaction
ENSG00000164117	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11929798	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11933187	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11940726	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11940758	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11942947	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13101580	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1508222	0.81[EUR][1000 genomes]
rs17357120	0.81[EUR][1000 genomes]
rs1876515	0.82[EUR][1000 genomes]
rs2332836	0.91[EUR][1000 genomes]
rs34407356	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34888351	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35332594	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4695915	0.84[AFR][1000 genomes]
rs4695918	0.82[AMR][1000 genomes]
rs4695919	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4695921	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68084371	0.87[AFR][1000 genomes]
rs7678305	0.84[AMR][1000 genomes]

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
rs11947136	KIAA1712	Cis_1M	lymphoblastoid	RTeQTL
rs11947136	KIAA1712	cis	multi-tissue	Pritchard
rs11947136	CEP44	cis	Nerve Tibial	GTEx
rs11947136	CEP44	cis	Esophagus Muscularis	GTEx
rs11947136	CEP44	cis	Thyroid	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175205600-175214200	Weak transcription	Esophagus	oesophagus
2	chr4:175205600-175241600	Weak transcription	Small Intestine	intestine
3	chr4:175205800-175214200	Weak transcription	Pancreas	Pancrea
4	chr4:175206000-175214000	Weak transcription	Psoas Muscle	Psoas
5	chr4:175206000-175214200	Weak transcription	Ovary	ovary
6	chr4:175206000-175235000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:175206200-175214000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:175206200-175214200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:175206200-175214200	Weak transcription	Aorta	Aorta
10	chr4:175206200-175241000	Weak transcription	Right Ventricle	heart
11	chr4:175206400-175214000	Weak transcription	HMEC	breast
12	chr4:175206400-175214000	Weak transcription	HSMM	muscle
13	chr4:175206400-175214200	Weak transcription	Thymus	Thymus
14	chr4:175206400-175221800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:175206400-175228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:175206600-175237800	Weak transcription	Osteobl	bone
17	chr4:175206800-175229200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:175207000-175214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:175207000-175214200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:175207000-175239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:175207000-175240000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:175207000-175242000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:175207200-175214000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:175207400-175214000	Weak transcription	Liver	Liver
26	chr4:175207600-175220800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:175208600-175214000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:175211600-175214800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:175212000-175215200	ZNF genes & repeats	Dnd41	blood
30	chr4:175212600-175214600	ZNF genes & repeats	A549	lung
31	chr4:175212600-175215200	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr4:175212600-175215200	ZNF genes & repeats	K562	blood
33	chr4:175212800-175214600	ZNF genes & repeats	Fetal Thymus	thymus
34	chr4:175213000-175214200	Strong transcription	Colonic Mucosa	Colon
35	chr4:175213000-175214600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:175213000-175214600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:175213000-175214600	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr4:175213000-175214600	ZNF genes & repeats	Fetal Lung	lung
39	chr4:175213000-175214600	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr4:175213000-175214800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:175213000-175214800	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr4:175213000-175215000	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr4:175213000-175215000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
44	chr4:175213000-175215000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr4:175213000-175215200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:175213200-175214000	Weak transcription	Left Ventricle	heart
47	chr4:175213200-175214400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr4:175213200-175214600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:175213200-175214600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:175213200-175214800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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