Variant report

Variant	rs10229323
Chromosome Location	chr7:6247530-6247531
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	chr7:6246409..6248092-chr7:6248165..6250514,2	K562	blood:
2	chr7:6238671..6240280-chr7:6246179..6247952,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10046499	0.81[ASN][1000 genomes]
rs10216107	0.81[ASN][1000 genomes]
rs10225119	0.81[ASN][1000 genomes]
rs10226743	0.81[ASN][1000 genomes]
rs10227013	0.87[ASN][1000 genomes]
rs10228430	0.81[ASN][1000 genomes]
rs10235115	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10240510	0.80[ASN][1000 genomes]
rs10246266	0.81[ASN][1000 genomes]
rs10255598	0.81[ASN][1000 genomes]
rs10255918	0.81[ASN][1000 genomes]
rs10255947	1.00[EUR][1000 genomes]
rs10257181	0.81[ASN][1000 genomes]
rs10257248	0.81[ASN][1000 genomes]
rs10261217	0.87[ASN][1000 genomes]
rs10267982	1.00[EUR][1000 genomes]
rs10271600	1.00[EUR][1000 genomes]
rs10275021	0.81[ASN][1000 genomes]
rs10282278	0.81[ASN][1000 genomes]
rs11760468	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11768749	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12667323	0.81[ASN][1000 genomes]
rs13437890	0.81[ASN][1000 genomes]
rs17136048	0.81[ASN][1000 genomes]
rs34123833	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34623646	0.80[ASN][1000 genomes]
rs58052451	0.80[ASN][1000 genomes]
rs59100979	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59180903	1.00[EUR][1000 genomes]
rs59568570	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61750868	0.81[ASN][1000 genomes]
rs6463541	0.87[ASN][1000 genomes]
rs6463542	0.87[ASN][1000 genomes]
rs6463543	0.87[ASN][1000 genomes]
rs6463544	0.87[ASN][1000 genomes]
rs6944071	0.81[ASN][1000 genomes]
rs6944216	1.00[EUR][1000 genomes]
rs6949823	0.81[ASN][1000 genomes]
rs6960965	0.83[ASN][1000 genomes]
rs6969863	1.00[EUR][1000 genomes]
rs6976305	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7780269	0.87[ASN][1000 genomes]
rs7807841	0.83[ASN][1000 genomes]
rs7811702	0.87[ASN][1000 genomes]
rs9986688	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6228600-6247800	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:6228600-6257400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:6229000-6259800	Weak transcription	NHEK	skin
4	chr7:6229200-6252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:6229400-6270600	Weak transcription	Gastric	stomach
6	chr7:6229800-6248600	Weak transcription	Fetal Lung	lung
7	chr7:6229800-6257600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:6230000-6248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:6238600-6261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:6238800-6248400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:6239200-6249200	Weak transcription	Small Intestine	intestine
12	chr7:6239600-6248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:6240800-6265400	Weak transcription	HSMM	muscle
14	chr7:6241000-6248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:6241000-6265200	Weak transcription	Fetal Stomach	stomach
16	chr7:6241200-6265600	Weak transcription	Fetal Intestine Small	intestine
17	chr7:6242200-6249000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:6244400-6248000	Weak transcription	Psoas Muscle	Psoas
19	chr7:6244400-6248200	Weak transcription	Left Ventricle	heart
20	chr7:6244400-6248600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:6244400-6261400	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:6245400-6247800	Weak transcription	Ovary	ovary
23	chr7:6246000-6248000	Weak transcription	HSMMtube	muscle
24	chr7:6246200-6247600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:6246200-6248000	Weak transcription	Aorta	Aorta
26	chr7:6246200-6259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:6246400-6247600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:6246400-6248600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:6246400-6248600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:6246400-6249000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:6246400-6259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:6246400-6259000	Weak transcription	A549	lung
33	chr7:6246600-6247600	Weak transcription	Adipose Nuclei	Adipose
34	chr7:6246600-6248000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:6246600-6248000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:6246600-6248000	Weak transcription	NHDF-Ad	bronchial
37	chr7:6246600-6248400	Weak transcription	Fetal Brain Male	brain
38	chr7:6246600-6248800	Weak transcription	K562	blood
39	chr7:6246600-6249200	Weak transcription	NHLF	lung
40	chr7:6246600-6261200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:6247200-6249200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:6247400-6247600	Enhancers	Right Ventricle	heart
43	chr7:6247400-6248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:6247400-6249000	Enhancers	Right Atrium	heart
45	chr7:6247400-6250800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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