Variant report

Variant	rs72714988
Chromosome Location	chr1:161334023-161334024
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161328582..161330523-chr1:161333612..161336160,2	MCF-7	breast:
2	chr1:161333138..161335243-chr1:161353873..161355645,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12744234	1.00[AFR][1000 genomes]
rs17394957	1.00[AFR][1000 genomes]
rs17399583	1.00[AFR][1000 genomes]
rs35949692	1.00[AFR][1000 genomes]
rs66888136	1.00[AFR][1000 genomes]
rs67307769	1.00[AFR][1000 genomes]
rs72714967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72714978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72714996	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72714988	HSPA7	cis	Artery Tibial	GTEx
rs72714988	HSPA7	cis	Muscle Skeletal	GTEx
rs72714988	FCGR2C	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161286800-161337400	Weak transcription	Fetal Heart	heart
2	chr1:161287000-161337400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:161294200-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:161294200-161338200	Weak transcription	Small Intestine	intestine
5	chr1:161304600-161342600	Weak transcription	Esophagus	oesophagus
6	chr1:161304800-161334600	Weak transcription	Fetal Brain Male	brain
7	chr1:161305000-161337800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:161305400-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:161307400-161337600	Weak transcription	Psoas Muscle	Psoas
10	chr1:161310600-161337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:161312600-161335800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:161312600-161341200	Weak transcription	HMEC	breast
13	chr1:161313000-161337600	Weak transcription	Spleen	Spleen
14	chr1:161313000-161338400	Weak transcription	Pancreas	Pancrea
15	chr1:161313000-161341000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:161313000-161341200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:161313200-161334600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:161313200-161337600	Weak transcription	Right Ventricle	heart
19	chr1:161313400-161334400	Weak transcription	K562	blood
20	chr1:161313400-161336000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:161315000-161335000	Weak transcription	A549	lung
22	chr1:161315200-161336000	Weak transcription	GM12878-XiMat	blood
23	chr1:161317000-161337400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:161317200-161336000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:161317200-161338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:161320600-161337000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:161321600-161337800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:161321800-161348800	Weak transcription	Gastric	stomach
29	chr1:161326200-161337200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:161327200-161339200	Weak transcription	NHLF	lung
31	chr1:161327400-161337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:161327400-161337800	Weak transcription	Brain Germinal Matrix	brain
33	chr1:161327400-161352600	Weak transcription	Lung	lung
34	chr1:161327600-161338600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:161327800-161337400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:161328400-161334800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:161328400-161359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:161328600-161359000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:161328800-161336800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:161329200-161337400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:161329600-161334400	Weak transcription	Fetal Brain Female	brain
42	chr1:161329600-161337400	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:161329800-161335600	Weak transcription	HSMM	muscle
44	chr1:161329800-161337000	Weak transcription	Brain Anterior Caudate	brain
45	chr1:161329800-161337400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:161329800-161337400	Weak transcription	Fetal Kidney	kidney
47	chr1:161329800-161337800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:161330800-161336800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:161331000-161334400	Weak transcription	Fetal Stomach	stomach
50	chr1:161331000-161336800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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