Variant report

Variant	rs12174022
Chromosome Location	chr6:128829631-128829632
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	chr6:128827840..128829694-chr6:128832240..128833795,2	MCF-7	breast:
2	chr6:128817873..128822661-chr6:128826854..128830658,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224733	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17055961	1.00[AMR][1000 genomes]
rs17055964	1.00[AMR][1000 genomes]
rs17055990	1.00[AMR][1000 genomes]
rs17056021	1.00[AMR][1000 genomes]
rs17056025	1.00[AMR][1000 genomes]
rs17056027	1.00[AMR][1000 genomes]
rs17056036	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3503365	chr6:128826884-128830707	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3503361	chr6:128827668-128829711	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3474260	chr6:128827680-128829691	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3503364	chr6:128827719-128829639	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3503362	chr6:128827725-128829632	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128808800-128830800	Weak transcription	Lung	lung
2	chr6:128815200-128833800	Enhancers	Fetal Intestine Large	intestine
3	chr6:128817200-128839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:128817200-128839800	Weak transcription	Aorta	Aorta
5	chr6:128820600-128833800	Enhancers	Fetal Intestine Small	intestine
6	chr6:128821600-128836800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:128823400-128832800	Enhancers	Stomach Mucosa	stomach
8	chr6:128825800-128829800	Enhancers	Brain Hippocampus Middle	brain
9	chr6:128825800-128831200	Weak transcription	Psoas Muscle	Psoas
10	chr6:128825800-128832400	Weak transcription	Fetal Kidney	kidney
11	chr6:128825800-128840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:128826000-128830800	Weak transcription	Right Ventricle	heart
13	chr6:128826800-128831000	Weak transcription	Left Ventricle	heart
14	chr6:128827200-128829800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:128827400-128830800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:128827600-128831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:128828200-128831200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:128828400-128830400	Enhancers	HUVEC	blood vessel
19	chr6:128828400-128831600	Enhancers	HSMMtube	muscle
20	chr6:128828600-128829800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:128828600-128830000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:128828600-128830000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr6:128828600-128830000	Enhancers	Ovary	ovary
24	chr6:128828600-128830000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr6:128828600-128830000	Enhancers	Small Intestine	intestine
26	chr6:128828600-128831000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:128828600-128831400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:128828600-128831400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:128828600-128831600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:128828600-128831600	Enhancers	HSMM	muscle
31	chr6:128828600-128832400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:128828600-128832800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:128828600-128833800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:128828600-128834000	Enhancers	NH-A	brain
35	chr6:128828800-128831200	Weak transcription	Esophagus	oesophagus
36	chr6:128829000-128829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:128829000-128830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:128829000-128830800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:128829000-128832400	Weak transcription	Gastric	stomach
40	chr6:128829000-128832400	Weak transcription	Right Atrium	heart
41	chr6:128829000-128834800	Weak transcription	Fetal Stomach	stomach
42	chr6:128829000-128836400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:128829200-128829800	Enhancers	Brain Cingulate Gyrus	brain
44	chr6:128829200-128829800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr6:128829200-128830600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr6:128829200-128831400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:128829200-128832200	Weak transcription	Fetal Lung	lung
48	chr6:128829400-128829800	Active TSS	HepG2	liver
49	chr6:128829400-128830400	Active TSS	Brain Angular Gyrus	brain
50	chr6:128829400-128830400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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