Variant report

Variant	rs4347044
Chromosome Location	chr9:94662817-94662818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94656937..94658928-chr9:94660784..94663442,2	MCF-7	breast:
2	chr9:94658826..94661180-chr9:94661410..94663593,2	K562	blood:
3	chr9:94653069..94655970-chr9:94661069..94663824,3	K562	blood:
4	chr9:94661900..94664292-chr9:94705248..94709269,4	K562	blood:
5	chr9:94538158..94540180-chr9:94661146..94663275,2	K562	blood:
6	chr9:94658208..94667163-chr9:94705322..94714120,17	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10761137	0.82[EUR][1000 genomes]
rs10820914	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10820915	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992149	0.82[AMR][1000 genomes]
rs10992151	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10992158	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992159	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11789973	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11792319	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12683797	0.83[AMR][1000 genomes]
rs1609292	0.83[EUR][1000 genomes]
rs1881384	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1919102	0.80[EUR][1000 genomes]
rs1919103	0.83[EUR][1000 genomes]
rs2030992	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3905385	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4275276	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4347043	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4430151	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4517189	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57688942	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58431919	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59723153	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62565678	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62565679	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62565747	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72746246	0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4347044	ROR2	cis	Thyroid	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94649400-94663200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:94651200-94665000	Weak transcription	NHLF	lung
3	chr9:94658000-94663600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94658000-94667400	Enhancers	Fetal Lung	lung
5	chr9:94658200-94666200	Enhancers	Fetal Kidney	kidney
6	chr9:94658400-94664400	Enhancers	Fetal Intestine Large	intestine
7	chr9:94658400-94664600	Enhancers	Fetal Intestine Small	intestine
8	chr9:94658400-94665800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr9:94658800-94663400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:94659000-94663200	Enhancers	Pancreas	Pancrea
11	chr9:94659200-94663000	Enhancers	Gastric	stomach
12	chr9:94659200-94663000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr9:94659200-94663400	Enhancers	Fetal Muscle Leg	muscle
14	chr9:94659200-94665400	Enhancers	Ovary	ovary
15	chr9:94659600-94663200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:94659600-94665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:94659600-94668400	Enhancers	Colon Smooth Muscle	Colon
18	chr9:94659800-94663600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:94660200-94663400	Enhancers	Placenta	Placenta
20	chr9:94660200-94663800	Enhancers	Duodenum Mucosa	Duodenum
21	chr9:94660200-94666200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:94660400-94663400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:94660600-94663000	Enhancers	Fetal Thymus	thymus
24	chr9:94660800-94663000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:94660800-94663000	Enhancers	Right Ventricle	heart
26	chr9:94661000-94663000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr9:94661000-94663000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr9:94661000-94663000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:94661000-94663000	Enhancers	Lung	lung
30	chr9:94661000-94663000	Genic enhancers	Right Atrium	heart
31	chr9:94661200-94666600	Enhancers	Fetal Stomach	stomach
32	chr9:94661600-94663000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:94661600-94665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:94662000-94663000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr9:94662000-94664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:94662200-94663400	Enhancers	Fetal Brain Male	brain
37	chr9:94662200-94665200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr9:94662200-94669400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr9:94662400-94663400	Enhancers	Adipose Nuclei	Adipose
40	chr9:94662400-94664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:94662400-94664200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr9:94662400-94664800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr9:94662400-94665400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:94662400-94665800	Enhancers	Fetal Heart	heart
45	chr9:94662600-94663000	Enhancers	Brain Hippocampus Middle	brain
46	chr9:94662600-94663000	Enhancers	Esophagus	oesophagus
47	chr9:94662600-94663000	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr9:94662600-94663800	Flanking Active TSS	K562	blood
49	chr9:94662600-94664200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr9:94662800-94663000	Enhancers	Primary hematopoietic stem cells	blood

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