Variant report

Variant	rs73060728
Chromosome Location	chr7:6388024-6388025
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6046534..6048837-chr7:6387102..6390061,2	MCF-7	breast:
2	chr7:6377795..6380161-chr7:6386976..6388780,2	MCF-7	breast:
3	chr7:6097568..6100190-chr7:6387069..6389785,3	MCF-7	breast:
4	chr7:6387247..6388755-chr7:6413232..6415374,2	MCF-7	breast:
5	chr7:6386514..6388780-chr7:6439968..6442713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086232	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000136238	Chromatin interaction
ENSG00000178397	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10224877	1.00[AMR][1000 genomes]
rs12055988	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12056244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349887	1.00[AMR][1000 genomes]
rs6957147	1.00[AMR][1000 genomes]
rs6957783	1.00[AMR][1000 genomes]
rs73060723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060726	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060727	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73060730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73060732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73060735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73060741	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73676739	1.00[AMR][1000 genomes]
rs7777861	1.00[AMR][1000 genomes]
rs7800977	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1025381	chr7:6356704-6409818	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv538716	chr7:6365534-6400845	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	esv3375044	chr7:6387252-6389800	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6386800-6389000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:6387200-6388200	Flanking Active TSS	Dnd41	blood
3	chr7:6387200-6388400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:6387200-6388600	Active TSS	Gastric	stomach
5	chr7:6387200-6389000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:6387200-6389000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:6387200-6389000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:6387200-6389000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:6387200-6389000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:6387200-6389000	Active TSS	Brain Hippocampus Middle	brain
11	chr7:6387200-6389000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:6387200-6389000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:6387200-6389200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:6387400-6388800	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr7:6387400-6389000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:6387400-6389000	Active TSS	Fetal Brain Female	brain
17	chr7:6387400-6389000	Active TSS	Stomach Smooth Muscle	stomach
18	chr7:6387600-6388200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr7:6387600-6388200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:6387600-6388200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:6387600-6388200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr7:6387600-6388200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr7:6387600-6388200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:6387600-6388200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:6387600-6388200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr7:6387600-6388200	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr7:6387600-6388600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:6387600-6388600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:6387600-6388600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:6387600-6388600	Active TSS	Fetal Intestine Large	intestine
31	chr7:6387600-6388600	Active TSS	NHEK	skin
32	chr7:6387600-6388800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:6387600-6388800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:6387600-6388800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:6387600-6388800	Active TSS	Muscle Satellite Cultured Cells	--
36	chr7:6387600-6388800	Active TSS	HMEC	breast
37	chr7:6387600-6389000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:6387600-6389000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:6387600-6389000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr7:6387600-6389000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:6387600-6389000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:6387600-6389000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:6387600-6389000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:6387600-6389000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:6387600-6389000	Active TSS	Brain Angular Gyrus	brain
46	chr7:6387600-6389000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:6387600-6389000	Active TSS	Fetal Stomach	stomach
48	chr7:6387600-6389000	Active TSS	Rectal Smooth Muscle	rectum
49	chr7:6387600-6389000	Active TSS	A549	lung
50	chr7:6387600-6389000	Active TSS	HepG2	liver

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