Variant report

Variant	rs9297722
Chromosome Location	chr8:90795511-90795512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90795048..90796899-chr8:90901690..90903270,2	MCF-7	breast:
2	chr8:90772791..90774637-chr8:90794290..90797972,3	MCF-7	breast:
3	chr8:90790967..90797055-chr8:90994383..90998113,5	MCF-7	breast:
4	chr8:90768588..90770877-chr8:90794165..90796398,2	MCF-7	breast:
5	chr8:90794527..90798218-chr8:90801291..90805045,3	K562	blood:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10097279	0.92[CHD][hapmap];0.82[ASN][1000 genomes]
rs10100184	1.00[CEU][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10102596	0.82[ASN][1000 genomes]
rs10113478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10504881	1.00[CEU][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap]
rs16900429	1.00[CEU][hapmap]
rs16900627	0.92[CHD][hapmap];0.83[JPT][hapmap]
rs16900650	0.83[JPT][hapmap]
rs16900684	0.83[JPT][hapmap]
rs218906	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs218911	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs218924	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs28823689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56017098	0.82[ASN][1000 genomes]
rs73694484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844627	1.00[CEU][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9297722	RP11-37B2.1	cis	Thyroid	GTEx
rs9297722	RP11-37B2.1	cis	lung	GTEx
rs9297722	RP11-37B2.1	cis	Artery Tibial	GTEx
rs9297722	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs9297722	ME1	trans	lymphoblastoid	seeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
4	chr8:90772000-90796800	Weak transcription	Lung	lung
5	chr8:90772000-90797000	Weak transcription	Ovary	ovary
6	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
7	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
8	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
9	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
10	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
11	chr8:90772400-90802200	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:90773200-90799000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:90774200-90803600	Weak transcription	Fetal Heart	heart
16	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:90776400-90799800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:90779000-90801200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:90779600-90802200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:90781400-90806600	Weak transcription	Right Ventricle	heart
21	chr8:90781800-90805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:90783600-90803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
24	chr8:90784400-90799400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:90785600-90797000	Weak transcription	Fetal Intestine Small	intestine
26	chr8:90785600-90799200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:90785800-90807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:90785800-90810800	Weak transcription	Fetal Brain Female	brain
30	chr8:90786000-90796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:90786000-90799000	Weak transcription	Brain Angular Gyrus	brain
32	chr8:90786000-90799600	Weak transcription	Brain Substantia Nigra	brain
33	chr8:90786000-90813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:90786400-90809800	Weak transcription	HepG2	liver
35	chr8:90786800-90797000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:90786800-90797800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:90786800-90798400	Weak transcription	HSMMtube	muscle
38	chr8:90787000-90797000	Weak transcription	Fetal Kidney	kidney
39	chr8:90787400-90796600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:90787400-90799200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:90788400-90796400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:90788400-90796600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:90788600-90799000	Weak transcription	Brain Anterior Caudate	brain
44	chr8:90789000-90797000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:90789400-90797000	Weak transcription	Fetal Stomach	stomach
46	chr8:90789400-90798400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:90792000-90795600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:90792000-90804200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:90792200-90802600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:90792200-90805800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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