Variant report

Variant	rs34123833
Chromosome Location	chr7:6241939-6241940
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6231008..6235144-chr7:6239773..6243041,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10046499	0.94[ASN][1000 genomes]
rs10216107	0.94[ASN][1000 genomes]
rs10224504	0.83[ASN][1000 genomes]
rs10225119	0.94[ASN][1000 genomes]
rs10226743	0.94[ASN][1000 genomes]
rs10228389	0.88[ASN][1000 genomes]
rs10228430	0.94[ASN][1000 genomes]
rs10229323	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10235115	1.00[EUR][1000 genomes]
rs10242394	0.88[ASN][1000 genomes]
rs10246266	0.94[ASN][1000 genomes]
rs10247585	0.83[ASN][1000 genomes]
rs10250285	0.88[ASN][1000 genomes]
rs10253733	0.83[ASN][1000 genomes]
rs10254689	0.83[ASN][1000 genomes]
rs10255598	0.94[ASN][1000 genomes]
rs10255914	0.88[ASN][1000 genomes]
rs10255918	0.94[ASN][1000 genomes]
rs10255947	1.00[EUR][1000 genomes]
rs10257181	0.94[ASN][1000 genomes]
rs10257248	0.94[ASN][1000 genomes]
rs10257654	0.88[ASN][1000 genomes]
rs10257971	0.88[ASN][1000 genomes]
rs10261466	0.81[ASN][1000 genomes]
rs10267982	1.00[EUR][1000 genomes]
rs10271600	1.00[EUR][1000 genomes]
rs10275021	0.94[ASN][1000 genomes]
rs10279137	0.88[ASN][1000 genomes]
rs10280585	0.88[ASN][1000 genomes]
rs10282278	0.94[ASN][1000 genomes]
rs11760468	1.00[EUR][1000 genomes]
rs11768047	0.88[ASN][1000 genomes]
rs11768749	1.00[EUR][1000 genomes]
rs11770730	0.81[ASN][1000 genomes]
rs12667323	0.94[ASN][1000 genomes]
rs12667392	0.81[ASN][1000 genomes]
rs12669486	0.83[ASN][1000 genomes]
rs13437890	0.94[ASN][1000 genomes]
rs17136048	0.94[ASN][1000 genomes]
rs28385378	0.88[ASN][1000 genomes]
rs28589289	0.88[ASN][1000 genomes]
rs58466335	0.83[ASN][1000 genomes]
rs59100979	1.00[EUR][1000 genomes]
rs59180903	1.00[EUR][1000 genomes]
rs59568570	1.00[EUR][1000 genomes]
rs60892137	0.88[ASN][1000 genomes]
rs61750868	0.94[ASN][1000 genomes]
rs61753115	0.88[ASN][1000 genomes]
rs61753118	0.88[ASN][1000 genomes]
rs6944071	0.94[ASN][1000 genomes]
rs6944216	1.00[EUR][1000 genomes]
rs6949823	0.94[ASN][1000 genomes]
rs6969863	1.00[EUR][1000 genomes]
rs6976305	1.00[EUR][1000 genomes]
rs7796322	0.88[ASN][1000 genomes]
rs9655493	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv5629	chr7:6217866-6263131	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6219600-6243000	Weak transcription	K562	blood
2	chr7:6227400-6242800	Weak transcription	A549	lung
3	chr7:6228600-6247800	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:6228600-6257400	Weak transcription	Primary B cells from cord blood	blood
5	chr7:6228800-6244200	Weak transcription	NHDF-Ad	bronchial
6	chr7:6229000-6259800	Weak transcription	NHEK	skin
7	chr7:6229200-6244000	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:6229200-6244600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:6229200-6252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:6229400-6242200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:6229400-6270600	Weak transcription	Gastric	stomach
12	chr7:6229800-6244200	Weak transcription	Lung	lung
13	chr7:6229800-6244600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:6229800-6248600	Weak transcription	Fetal Lung	lung
15	chr7:6229800-6257600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:6230000-6248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:6230400-6244600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:6237600-6242600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:6238400-6243800	Weak transcription	Adipose Nuclei	Adipose
20	chr7:6238600-6245200	Weak transcription	HSMMtube	muscle
21	chr7:6238600-6261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:6238800-6248400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:6239000-6245200	Weak transcription	Aorta	Aorta
24	chr7:6239200-6245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:6239200-6249200	Weak transcription	Small Intestine	intestine
26	chr7:6239400-6243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:6239600-6248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:6240000-6242200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:6240200-6242200	Enhancers	Left Ventricle	heart
30	chr7:6240400-6242000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:6240400-6242000	Enhancers	Psoas Muscle	Psoas
32	chr7:6240600-6242000	Enhancers	Ovary	ovary
33	chr7:6240600-6242400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr7:6240800-6242000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:6240800-6265400	Weak transcription	HSMM	muscle
36	chr7:6241000-6243800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:6241000-6243800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:6241000-6244000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:6241000-6245600	Weak transcription	Fetal Heart	heart
40	chr7:6241000-6248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:6241000-6265200	Weak transcription	Fetal Stomach	stomach
42	chr7:6241200-6245200	Weak transcription	NHLF	lung
43	chr7:6241200-6265600	Weak transcription	Fetal Intestine Small	intestine
44	chr7:6241400-6246000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:6241600-6242200	Enhancers	Right Atrium	heart
46	chr7:6241800-6242000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:6241800-6242000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:6241800-6242000	Enhancers	Esophagus	oesophagus
49	chr7:6241800-6242000	Enhancers	Pancreas	Pancrea
50	chr7:6241800-6242000	Enhancers	Right Ventricle	heart

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