Variant report

Variant	rs34593300
Chromosome Location	chr7:6415040-6415041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6413015..6417903-chr7:6435938..6439469,5	MCF-7	breast:
2	chr7:6413960..6415587-chr7:6430551..6433223,4	K562	blood:
3	chr7:6412561..6415167-chr8:145131174..145134036,2	MCF-7	breast:
4	chr7:6412517..6417079-chr7:6439604..6446019,8	MCF-7	breast:
5	chr7:6412666..6416399-chr7:6429961..6432840,4	MCF-7	breast:
6	chr7:6414882..6417650-chr7:6542443..6546000,3	MCF-7	breast:
7	chr7:6387247..6388755-chr7:6413232..6415374,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction
ENSG00000178896	Chromatin interaction
ENSG00000178397	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10234438	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270779	0.85[ASN][1000 genomes]
rs10277187	0.81[AFR][1000 genomes]
rs12977	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2347338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421827	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34326300	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34353637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418095	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34444443	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34521445	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34610704	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638150	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35109494	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35130552	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149708	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35156887	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35551995	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35981225	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68158432	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6950333	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6954996	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967221	0.85[AMR][1000 genomes];0.94[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	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	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
11	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
12	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv3396417	chr7:6413052-6415600	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	esv3361320	chr7:6413402-6415500	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 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	chr7:6412800-6416600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:6413000-6415600	Active TSS	Colonic Mucosa	Colon
3	chr7:6413000-6416400	Active TSS	K562	blood
4	chr7:6413000-6416600	Active TSS	GM12878-XiMat	blood
5	chr7:6413000-6416800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:6413200-6415400	Active TSS	Duodenum Mucosa	Duodenum
7	chr7:6413200-6415400	Active TSS	Thymus	Thymus
8	chr7:6413200-6415400	Active TSS	Hela-S3	cervix
9	chr7:6413200-6416000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:6413200-6416400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:6413200-6416600	Active TSS	HepG2	liver
12	chr7:6413400-6415200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:6413400-6415400	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr7:6413400-6415400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:6413400-6415400	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:6413400-6415600	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr7:6413400-6415800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:6413400-6415800	Active TSS	Stomach Mucosa	stomach
19	chr7:6413400-6416000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:6413400-6416400	Active TSS	Fetal Intestine Small	intestine
21	chr7:6413400-6416600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr7:6413400-6416600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:6413600-6415200	Active TSS	Brain Angular Gyrus	brain
24	chr7:6413600-6415200	Active TSS	Brain Hippocampus Middle	brain
25	chr7:6413600-6415200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:6413600-6415200	Active TSS	Fetal Muscle Leg	muscle
27	chr7:6413600-6415200	Active TSS	Dnd41	blood
28	chr7:6413600-6415200	Active TSS	Osteobl	bone
29	chr7:6413600-6415400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr7:6413600-6415400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr7:6413600-6415400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr7:6413600-6415400	Active TSS	Brain Substantia Nigra	brain
33	chr7:6413600-6415400	Active TSS	Colon Smooth Muscle	Colon
34	chr7:6413600-6415400	Active TSS	Fetal Intestine Large	intestine
35	chr7:6413600-6415400	Active TSS	Fetal Lung	lung
36	chr7:6413600-6415400	Active TSS	NH-A	brain
37	chr7:6413600-6415600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:6413600-6415600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:6413600-6415600	Active TSS	Fetal Kidney	kidney
40	chr7:6413600-6415600	Active TSS	Fetal Stomach	stomach
41	chr7:6413600-6415600	Active TSS	Pancreas	Pancrea
42	chr7:6413600-6415800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:6413600-6415800	Active TSS	Fetal Muscle Trunk	muscle
44	chr7:6413600-6416000	Active TSS	Placenta	Placenta
45	chr7:6413600-6416000	Active TSS	Psoas Muscle	Psoas
46	chr7:6413600-6416200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr7:6413600-6416200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:6413600-6416400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:6413600-6416400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr7:6413600-6416400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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