Variant report

Variant	rs68084371
Chromosome Location	chr4:175201878-175201879
allele	A/G
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	RFX5	chr4:175201859-175201935	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr4:175201605-175202152	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr4:175201565-175201948	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:175186610..175188170-chr4:175200585..175202935,2	K562	blood:
2	chr4:175201466..175204098-chr4:175240301..175242969,3	K562	blood:
3	chr4:175201466..175203946-chr4:175240301..175242969,2	K562	blood:
4	chr4:175182024..175184066-chr4:175201212..175203528,2	K562	blood:

Variant related genes	Relation type
CEP44	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10520275	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10565	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11929798	0.86[AFR][1000 genomes]
rs11933187	0.90[AFR][1000 genomes]
rs11939946	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947136	0.87[AFR][1000 genomes]
rs13101580	0.85[AFR][1000 genomes]
rs13128257	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13130276	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17291087	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17291128	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17291408	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34407356	0.86[AFR][1000 genomes]
rs35332594	0.87[AFR][1000 genomes]
rs41279509	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4287982	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4695915	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4695922	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6553777	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6824643	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6851312	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72702217	0.85[EUR][1000 genomes]
rs7661236	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7669484	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs68084371	CEP44	cis	Thyroid	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
2	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
3	chr4:175154400-175202400	Weak transcription	Gastric	stomach
4	chr4:175158800-175202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:175169800-175203600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:175174800-175203400	Weak transcription	Thymus	Thymus
7	chr4:175178000-175203600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:175179200-175204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:175179400-175202400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:175181600-175203400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:175181600-175203600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:175182200-175202600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:175184200-175202400	Weak transcription	Fetal Intestine Large	intestine
14	chr4:175184200-175203600	Weak transcription	HSMM	muscle
15	chr4:175184400-175202400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:175184400-175202600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:175184400-175204000	Weak transcription	Left Ventricle	heart
18	chr4:175184800-175202400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:175187800-175202200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:175188600-175202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:175188600-175203400	Weak transcription	Primary B cells from cord blood	blood
22	chr4:175188600-175204000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:175190000-175203400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:175190200-175204000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:175190800-175203600	Weak transcription	Fetal Stomach	stomach
26	chr4:175195400-175202600	Weak transcription	Pancreas	Pancrea
27	chr4:175195400-175203800	Weak transcription	Placenta	Placenta
28	chr4:175195600-175202400	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:175196000-175202400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:175198800-175203200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:175199200-175204000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr4:175199400-175203200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:175199600-175202600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:175199800-175202600	Enhancers	Dnd41	blood
35	chr4:175200000-175202000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr4:175200200-175202400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:175200200-175202600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:175200400-175204000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:175200600-175202200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:175200800-175202600	Weak transcription	Fetal Brain Male	brain
41	chr4:175200800-175202600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr4:175200800-175203400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:175201000-175202600	Weak transcription	NHDF-Ad	bronchial
44	chr4:175201000-175203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:175201200-175202400	Weak transcription	Fetal Lung	lung
46	chr4:175201200-175202600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:175201400-175203400	Enhancers	Primary T cells from cord blood	blood
48	chr4:175201400-175203800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr4:175201400-175204000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:175201600-175202000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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