Variant report

Variant	rs9917993
Chromosome Location	chr4:190891703-190891704
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:29634674..29636233-chr4:190890902..190893775,2	K562	blood:
2	chr20:29634371..29640092-chr4:190891314..190895900,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221319	Chromatin interaction
ENSG00000238151	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10006319	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10026449	0.83[EUR][1000 genomes]
rs11132782	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11132783	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12641802	0.91[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs12649488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13114544	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13131647	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60965499	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9917991	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9990612	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9917993	AF146191.4	cis	Thyroid	GTEx
rs9917993	AF146191.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:190885000-190893800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:190885200-190891800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:190885200-190893600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr4:190886000-190891800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:190886000-190891800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:190886000-190893600	Weak transcription	Ovary	ovary
7	chr4:190891200-190892000	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr4:190891200-190892000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
9	chr4:190891200-190892000	ZNF genes & repeats	GM12878-XiMat	blood
10	chr4:190891200-190892200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
11	chr4:190891200-190892400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr4:190891200-190892400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:190891200-190892400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:190891200-190892400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr4:190891200-190892400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr4:190891200-190892400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:190891200-190892400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:190891200-190892400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:190891200-190892400	ZNF genes & repeats	Liver	Liver
20	chr4:190891200-190892400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr4:190891200-190892400	ZNF genes & repeats	HUVEC	blood vessel
22	chr4:190891200-190892400	Strong transcription	K562	blood
23	chr4:190891200-190892400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr4:190891200-190892600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:190891200-190892600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:190891200-190896400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr4:190891400-190891800	ZNF genes & repeats	Esophagus	oesophagus
28	chr4:190891400-190892000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:190891400-190892000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
30	chr4:190891400-190892000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr4:190891400-190892200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr4:190891400-190892400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:190891400-190892400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:190891400-190892400	ZNF genes & repeats	Fetal Lung	lung
35	chr4:190891400-190896400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:190891400-190897000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr4:190891600-190891800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr4:190891600-190891800	Bivalent Enhancer	Brain Angular Gyrus	brain
39	chr4:190891600-190891800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr4:190891600-190891800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
41	chr4:190891600-190892000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:190891600-190892000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:190891600-190892000	ZNF genes & repeats	Spleen	Spleen
44	chr4:190891600-190892200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
45	chr4:190891600-190892200	ZNF genes & repeats	Gastric	stomach
46	chr4:190891600-190892200	ZNF genes & repeats	Pancreas	Pancrea
47	chr4:190891600-190892200	ZNF genes & repeats	A549	lung
48	chr4:190891600-190892400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr4:190891600-190892400	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr4:190891600-190892400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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