Variant report

Variant	rs7034153
Chromosome Location	chr9:97215324-97215325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97214734..97217712-chr9:97223589..97225379,2	MCF-7	breast:
2	chr9:97206178..97208805-chr9:97213845..97216691,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10114295	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10116979	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10122398	0.85[ASN][1000 genomes]
rs10125631	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10125744	0.85[ASN][1000 genomes]
rs10283669	0.81[ASN][1000 genomes]
rs10441776	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1061835	0.81[ASN][1000 genomes]
rs10993191	0.83[ASN][1000 genomes]
rs10993194	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993201	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11793128	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs11795331	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs12338230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12338572	0.85[ASN][1000 genomes]
rs12341403	0.81[ASN][1000 genomes]
rs12343123	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12343977	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1536690	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs16911832	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1878875	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2406663	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28459299	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28477240	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28575335	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28715696	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28802403	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4744330	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs55936246	0.85[ASN][1000 genomes]
rs55962682	0.85[ASN][1000 genomes]
rs56413623	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6479541	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6479545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479549	0.83[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7019137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7022386	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7025878	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7027704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7027860	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7028388	0.91[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7030326	0.81[ASN][1000 genomes]
rs7030967	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7036474	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7037298	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7041219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042219	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7042434	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7042468	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7045712	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7046779	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs722353	0.85[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs73529936	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7850084	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7856786	0.81[ASN][1000 genomes]
rs7858126	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7859571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs7859955	0.81[ASN][1000 genomes]
rs7868600	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7868703	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7873527	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7874441	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9299417	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs9632920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv33917	chr9:97185592-97216212	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv415866	chr9:97212790-97215430	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs7034153	HIATL1	cis	multi-tissue	Pritchard
rs7034153	FLJ14753	cis	multi-tissue	Pritchard
rs7034153	HIATL1	cis	Skin Sun Exposed Lower leg	GTEx
rs7034153	HIATL1	cis	Nerve Tibial	GTEx
rs7034153	HIATL1	cis	lymphoblastoid	seeQTL
rs7034153	HIATL1	cis	Thyroid	GTEx
rs7034153	RP11-307E17.8	cis	Esophagus Muscularis	GTEx
rs7034153	HIATL1	cis	Esophagus Mucosa	GTEx
rs7034153	HIATL1	Cis_1M	lymphoblastoid	RTeQTL
rs7034153	HIATL1	cis	Adipose Subcutaneous	GTEx
rs7034153	HIATL1	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97176800-97218000	Weak transcription	Fetal Brain Female	brain
2	chr9:97181400-97215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:97190400-97215800	Weak transcription	Ovary	ovary
4	chr9:97192200-97221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:97193800-97216000	Weak transcription	Brain Substantia Nigra	brain
6	chr9:97194000-97216000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:97195200-97216000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:97195200-97216000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:97195600-97218000	Weak transcription	Pancreas	Pancrea
10	chr9:97199400-97221400	Weak transcription	Psoas Muscle	Psoas
11	chr9:97201000-97223400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:97201000-97224600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr9:97201000-97225000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr9:97201000-97225800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr9:97201400-97221400	Weak transcription	Stomach Mucosa	stomach
16	chr9:97201400-97225200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr9:97201600-97224800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:97202000-97224200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr9:97202200-97215800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:97202200-97216000	Weak transcription	Brain Angular Gyrus	brain
21	chr9:97202200-97225600	Strong transcription	Dnd41	blood
22	chr9:97202400-97222600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:97203000-97215800	Weak transcription	Brain Anterior Caudate	brain
24	chr9:97203200-97225000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:97203800-97217000	Weak transcription	HepG2	liver
26	chr9:97204000-97215800	Weak transcription	Small Intestine	intestine
27	chr9:97204000-97215800	Weak transcription	NHLF	lung
28	chr9:97204200-97222800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:97204400-97227000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:97204600-97216200	Weak transcription	Fetal Brain Male	brain
31	chr9:97204800-97216000	Weak transcription	Spleen	Spleen
32	chr9:97205600-97215600	Weak transcription	Aorta	Aorta
33	chr9:97206200-97225800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:97206600-97224400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:97206800-97225200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr9:97206800-97225600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:97207000-97225800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr9:97207200-97216000	Weak transcription	Gastric	stomach
39	chr9:97207200-97218000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:97207200-97224800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:97207400-97215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:97207400-97215800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:97207400-97216000	Weak transcription	Left Ventricle	heart
44	chr9:97207400-97218000	Weak transcription	Esophagus	oesophagus
45	chr9:97208000-97215800	Weak transcription	Right Ventricle	heart
46	chr9:97208200-97224800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:97208400-97221400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:97208400-97222800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:97208400-97224600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:97208400-97225200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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