Variant report

Variant	rs7844497
Chromosome Location	chr8:126353584-126353585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126341424..126343336-chr8:126353093..126355921,2	MCF-7	breast:
2	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:
3	chr8:126345442..126348175-chr8:126352080..126354376,2	MCF-7	breast:
4	chr8:126350838..126353638-chr8:126441214..126443974,2	MCF-7	breast:
5	chr8:126353075..126354762-chr8:126358675..126361112,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10099164	0.96[ASN][1000 genomes]
rs10108110	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505454	0.88[JPT][hapmap]
rs10808543	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4242368	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319117	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4534140	0.84[CEU][hapmap]
rs4602904	0.83[JPT][hapmap];0.81[LWK][hapmap]
rs4604454	0.81[CEU][hapmap]
rs4871584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871588	0.82[JPT][hapmap]
rs6470349	0.88[JPT][hapmap]
rs6981550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989407	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004468	0.82[JPT][hapmap]
rs7010333	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015414	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814083	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7818760	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7819612	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7820471	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823958	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7835771	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7841947	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7844497	HAS2	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
7	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
8	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
9	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
10	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:126341600-126354200	Weak transcription	Lung	lung
12	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:126342400-126355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
15	chr8:126344800-126353800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:126346800-126353800	Weak transcription	Fetal Intestine Small	intestine
17	chr8:126346800-126354200	Weak transcription	Brain Substantia Nigra	brain
18	chr8:126346800-126354200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:126346800-126354400	Weak transcription	Brain Anterior Caudate	brain
20	chr8:126346800-126354400	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:126346800-126354400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:126346800-126354400	Weak transcription	Thymus	Thymus
23	chr8:126347000-126353800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:126347000-126354000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:126347000-126354400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:126347000-126354600	Weak transcription	Right Atrium	heart
27	chr8:126347000-126354800	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:126347600-126354000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:126348000-126354600	Weak transcription	Fetal Heart	heart
30	chr8:126348200-126354200	Weak transcription	HepG2	liver
31	chr8:126348800-126353800	Weak transcription	Fetal Intestine Large	intestine
32	chr8:126348800-126369800	Weak transcription	Gastric	stomach
33	chr8:126349200-126353600	Weak transcription	K562	blood
34	chr8:126349200-126354200	Enhancers	A549	lung
35	chr8:126349400-126354400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:126349800-126354400	Weak transcription	HMEC	breast
37	chr8:126351200-126353600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:126351400-126360400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:126351600-126354200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:126351600-126354800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:126351800-126354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:126351800-126354600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:126352000-126354200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:126352200-126353600	Weak transcription	NH-A	brain
45	chr8:126352200-126354000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:126352200-126354000	Weak transcription	Stomach Mucosa	stomach
47	chr8:126352200-126354600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:126352200-126362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:126352200-126363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:126352400-126354200	Weak transcription	Rectal Mucosa Donor 29	rectum

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