Variant report

Variant	rs511100
Chromosome Location	chr6:149692229-149692230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149687354..149691284-chr6:149691727..149695160,5	K562	blood:
2	chr6:149680069..149683623-chr6:149692115..149695638,3	MCF-7	breast:
3	chr6:149691320..149693840-chr6:149697416..149698951,2	K562	blood:

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2143076	0.82[ASN][1000 genomes]
rs2262617	0.80[EUR][1000 genomes]
rs2789488	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789492	0.82[ASN][1000 genomes]
rs489551	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4895788	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4897124	0.80[EUR][1000 genomes]
rs504985	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs506268	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs514839	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs521845	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs536203	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs537354	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs540538	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs544947	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560051	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs562428	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs564961	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs577001	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs579789	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs580011	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs585022	0.81[EUR][1000 genomes]
rs628488	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs638407	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs652807	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6570965	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9285519	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322178	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9373592	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9377212	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9390677	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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
2	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149656800-149694400	Weak transcription	Placenta	Placenta
2	chr6:149658000-149695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:149658800-149692400	Weak transcription	Fetal Kidney	kidney
4	chr6:149660400-149699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:149662200-149694800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:149664000-149694400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:149674600-149699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:149674600-149699200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:149674600-149699200	Weak transcription	Fetal Intestine Large	intestine
10	chr6:149677400-149692400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:149677800-149699200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:149680000-149692400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:149680000-149699200	Weak transcription	Fetal Brain Male	brain
14	chr6:149681000-149694800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:149681200-149699200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:149681800-149695000	Weak transcription	Adipose Nuclei	Adipose
17	chr6:149681800-149699200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:149682600-149699200	Weak transcription	Esophagus	oesophagus
19	chr6:149682600-149699200	Weak transcription	Spleen	Spleen
20	chr6:149682600-149709200	Weak transcription	Psoas Muscle	Psoas
21	chr6:149682800-149692400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:149682800-149699200	Weak transcription	Lung	lung
23	chr6:149683400-149698800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:149683600-149692400	Weak transcription	NH-A	brain
25	chr6:149683600-149699400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:149684400-149698800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:149684600-149699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:149685000-149694000	Weak transcription	NHEK	skin
29	chr6:149685200-149694800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:149685200-149699200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:149685200-149699400	Weak transcription	HMEC	breast
32	chr6:149685400-149692400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:149685600-149699200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:149685600-149699200	Weak transcription	Gastric	stomach
35	chr6:149685600-149699400	Weak transcription	Brain Angular Gyrus	brain
36	chr6:149685600-149699400	Weak transcription	Fetal Intestine Small	intestine
37	chr6:149685800-149692400	Weak transcription	Ovary	ovary
38	chr6:149685800-149699200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:149685800-149699200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:149685800-149699200	Weak transcription	Fetal Stomach	stomach
41	chr6:149685800-149699200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:149685800-149699600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:149686000-149692400	Weak transcription	HepG2	liver
44	chr6:149686000-149699200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:149686000-149709000	Weak transcription	Stomach Mucosa	stomach
46	chr6:149686200-149695000	Weak transcription	A549	lung
47	chr6:149686200-149699200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:149686400-149699200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr6:149686600-149692400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:149686600-149697000	Weak transcription	Brain Anterior Caudate	brain

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