Variant report

Variant	rs538563
Chromosome Location	chr6:147832156-147832157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147830521..147832164-chr6:147833225..147837282,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1222119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1333714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1629209	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1631864	0.86[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1789696	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1789697	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1789698	0.86[AFR][1000 genomes]
rs1789699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1855374	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2780850	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap]
rs34292635	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs471833	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs472577	0.88[ASW][hapmap];0.87[CEU][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4896920	0.87[CEU][hapmap]
rs494234	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs494395	0.87[CEU][hapmap]
rs500573	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs501472	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs522566	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs532364	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs536996	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs537817	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs540384	0.87[CEU][hapmap]
rs607474	0.87[CEU][hapmap]
rs609152	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs609963	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs618181	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs623003	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs634979	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs636447	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs637118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs645201	0.88[EUR][1000 genomes]
rs648995	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs650375	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs655698	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs660814	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs666217	0.86[AFR][1000 genomes]
rs669830	0.87[CEU][hapmap]
rs685322	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6923561	0.88[ASW][hapmap];0.87[CEU][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs693879	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604841	chr6:147832156-148193929	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147827800-147834000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:147828400-147832400	Active TSS	Fetal Kidney	kidney
3	chr6:147828600-147832200	Active TSS	HSMMtube	muscle
4	chr6:147828800-147832200	Active TSS	Muscle Satellite Cultured Cells	--
5	chr6:147828800-147832200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:147828800-147832400	Active TSS	Fetal Intestine Small	intestine
7	chr6:147828800-147832600	Active TSS	Brain Anterior Caudate	brain
8	chr6:147829400-147832400	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr6:147830600-147832600	Bivalent Enhancer	HepG2	liver
10	chr6:147830800-147832200	Bivalent/Poised TSS	Placenta	Placenta
11	chr6:147831000-147832200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:147831000-147832600	Flanking Active TSS	Liver	Liver
13	chr6:147831000-147832600	Flanking Active TSS	Fetal Lung	lung
14	chr6:147831000-147832600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:147831200-147832600	Bivalent/Poised TSS	Fetal Brain Male	brain
16	chr6:147831400-147832400	Active TSS	NHLF	lung
17	chr6:147831400-147832600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:147831400-147836400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:147831400-147838800	Weak transcription	Esophagus	oesophagus
20	chr6:147831600-147832200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:147831600-147832200	Flanking Active TSS	HMEC	breast
22	chr6:147831600-147832400	Enhancers	Ovary	ovary
23	chr6:147831600-147832400	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr6:147831600-147832600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:147831600-147832600	Enhancers	A549	lung
26	chr6:147831600-147852000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:147831800-147832200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr6:147831800-147832200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr6:147831800-147832200	Bivalent Enhancer	K562	blood
30	chr6:147831800-147832400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:147831800-147832400	Flanking Active TSS	Fetal Stomach	stomach
32	chr6:147831800-147832400	Enhancers	NHEK	skin
33	chr6:147831800-147832600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:147832000-147832400	Enhancers	HUVEC	blood vessel
35	chr6:147832000-147832600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr6:147832000-147832600	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr6:147832000-147832600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr6:147832000-147832600	Transcr. at gene 5' and 3'	HSMM	muscle
39	chr6:147832000-147839000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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