Variant report

Variant	rs10993201
Chromosome Location	chr9:97225664-97225665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97220678..97222830-chr9:97224349..97226700,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10114295	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10116979	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10122398	0.81[ASN][1000 genomes]
rs10125631	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10125744	0.81[ASN][1000 genomes]
rs10441776	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10993194	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12338230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338572	0.81[ASN][1000 genomes]
rs12343123	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12343977	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16911832	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406663	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28459299	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28477240	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28575335	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28715696	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28802403	0.81[ASN][1000 genomes]
rs55936246	0.81[ASN][1000 genomes]
rs55962682	0.81[ASN][1000 genomes]
rs56413623	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6479541	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6479545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6479549	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7022386	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7025878	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7027704	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027860	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7028388	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7030967	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7034153	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7036474	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7037298	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7041219	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7042219	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7042434	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7042468	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7045712	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7046779	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73529936	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7850084	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7858126	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7868600	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7868703	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7873527	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs908808	0.86[EUR][1000 genomes]
rs9632920	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv893593	chr9:97196979-97228918	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv893594	chr9:97221463-97283226	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10993201	HIATL1	cis	Skin Sun Exposed Lower leg	GTEx
rs10993201	HIATL1	cis	Esophagus Mucosa	GTEx
rs10993201	HIATL1	cis	Nerve Tibial	GTEx
rs10993201	HIATL1	cis	Thyroid	GTEx
rs10993201	RP11-307E17.8	cis	Esophagus Muscularis	GTEx
rs10993201	HIATL1	cis	Adipose Subcutaneous	GTEx
rs10993201	HIATL1	cis	lung	GTEx
rs10993201	HIATL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97201000-97225800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:97204400-97227000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:97206200-97225800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:97207000-97225800	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr9:97215200-97225800	Strong transcription	HSMM	muscle
6	chr9:97216400-97226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:97217000-97226600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:97218200-97225800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:97220000-97226400	Weak transcription	HepG2	liver
10	chr9:97220400-97227000	Weak transcription	Gastric	stomach
11	chr9:97221000-97225800	Strong transcription	A549	lung
12	chr9:97222200-97227000	Weak transcription	Esophagus	oesophagus
13	chr9:97222600-97237800	Weak transcription	Stomach Mucosa	stomach
14	chr9:97222800-97226600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:97222800-97226800	Weak transcription	Left Ventricle	heart
16	chr9:97223200-97225800	Strong transcription	Fetal Stomach	stomach
17	chr9:97223600-97226600	Weak transcription	Fetal Thymus	thymus
18	chr9:97223800-97226200	Weak transcription	Colonic Mucosa	Colon
19	chr9:97223800-97226800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:97224000-97226000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:97224000-97226600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr9:97224200-97225800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:97224200-97225800	Weak transcription	NHLF	lung
24	chr9:97224200-97226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr9:97224200-97226400	Weak transcription	Adipose Nuclei	Adipose
26	chr9:97224200-97226800	Weak transcription	Fetal Brain Male	brain
27	chr9:97224200-97227000	Weak transcription	Liver	Liver
28	chr9:97224200-97227000	Weak transcription	Psoas Muscle	Psoas
29	chr9:97224400-97226200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:97224400-97226600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr9:97224400-97226600	Weak transcription	Brain Substantia Nigra	brain
32	chr9:97224400-97226600	Weak transcription	Fetal Brain Female	brain
33	chr9:97224400-97226600	Weak transcription	Osteobl	bone
34	chr9:97224400-97227800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr9:97224600-97226600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:97224600-97226800	Weak transcription	NH-A	brain
37	chr9:97224600-97227000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:97224800-97226000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:97225000-97225800	Strong transcription	HSMMtube	muscle
40	chr9:97225000-97226600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:97225000-97226600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr9:97225000-97226800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:97225000-97227200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:97225200-97225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:97225200-97225800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr9:97225200-97226000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr9:97225200-97226400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:97225200-97226600	Weak transcription	Brain Hippocampus Middle	brain
49	chr9:97225200-97226600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:97225200-97226800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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