Variant report

Variant	rs531886973
Chromosome Location	chr6:128828869-128828870
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	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: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 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	esv11105	chr6:128827511-128829555	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv604653	chr6:128827591-128829399	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv604654	chr6:128827591-128829444	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3503361	chr6:128827668-128829711	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3474260	chr6:128827680-128829691	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3503364	chr6:128827719-128829639	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3503362	chr6:128827725-128829632	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3503366	chr6:128827774-128829592	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3474261	chr6:128827778-128829590	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3503367	chr6:128827778-128829590	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv604655	chr6:128827962-128829198	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv604656	chr6:128827962-128829399	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv604657	chr6:128827962-128829444	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv604658	chr6:128828070-128829444	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv604659	chr6:128828199-128829444	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv516115	chr6:128828268-128829096	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv604660	chr6:128828268-128829444	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv604661	chr6:128828679-128829399	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv604662	chr6:128828758-128829399	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 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	chr6:128824800-128829400	Enhancers	Fetal Heart	heart
9	chr6:128825000-128829400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:128825800-128829800	Enhancers	Brain Hippocampus Middle	brain
11	chr6:128825800-128831200	Weak transcription	Psoas Muscle	Psoas
12	chr6:128825800-128832400	Weak transcription	Fetal Kidney	kidney
13	chr6:128825800-128840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:128826000-128830800	Weak transcription	Right Ventricle	heart
15	chr6:128826600-128829200	Enhancers	Brain Angular Gyrus	brain
16	chr6:128826800-128829200	Enhancers	Fetal Lung	lung
17	chr6:128826800-128831000	Weak transcription	Left Ventricle	heart
18	chr6:128827200-128829800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:128827400-128830800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr6:128827600-128831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:128827800-128829400	Flanking Active TSS	HepG2	liver
22	chr6:128828200-128829400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:128828200-128829400	Enhancers	Stomach Smooth Muscle	stomach
24	chr6:128828200-128831200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:128828400-128829000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr6:128828400-128829200	Enhancers	NHLF	lung
27	chr6:128828400-128829600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:128828400-128830400	Enhancers	HUVEC	blood vessel
29	chr6:128828400-128831600	Enhancers	HSMMtube	muscle
30	chr6:128828600-128829000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:128828600-128829000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:128828600-128829000	Flanking Active TSS	Liver	Liver
33	chr6:128828600-128829000	Enhancers	Gastric	stomach
34	chr6:128828600-128829000	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:128828600-128829000	Enhancers	Right Atrium	heart
36	chr6:128828600-128829200	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr6:128828600-128829200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr6:128828600-128829200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr6:128828600-128829400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:128828600-128829400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr6:128828600-128829400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:128828600-128829400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr6:128828600-128829400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:128828600-128829400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:128828600-128829400	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr6:128828600-128829400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:128828600-128829400	Enhancers	Colonic Mucosa	Colon
48	chr6:128828600-128829400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr6:128828600-128829400	Flanking Active TSS	A549	lung
50	chr6:128828600-128829600	Enhancers	H1 Cell Line	embryonic stem cell

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