Variant report

Variant	rs73105656
Chromosome Location	chr7:33089305-33089306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:33083301..33085160-chr7:33088385..33090728,2	MCF-7	breast:
2	chr7:33079534..33084537-chr7:33086210..33093364,8	K562	blood:
3	chr7:33088527..33090596-chr7:33100738..33102962,3	MCF-7	breast:
4	chr7:33072810..33075175-chr7:33088773..33090510,2	K562	blood:
5	chr7:33088962..33091381-chr7:33100147..33102335,2	K562	blood:

Variant related genes	Relation type
ENSG00000122643	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1127607	1.00[ASN][1000 genomes]
rs17473365	1.00[ASN][1000 genomes]
rs67608094	1.00[ASN][1000 genomes]
rs73093571	1.00[ASN][1000 genomes]
rs73095309	1.00[ASN][1000 genomes]
rs73095315	1.00[ASN][1000 genomes]
rs73095326	1.00[ASN][1000 genomes]
rs73095361	1.00[ASN][1000 genomes]
rs73095378	1.00[ASN][1000 genomes]
rs73098273	1.00[ASN][1000 genomes]
rs73103770	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73107303	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73107315	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33066200-33101600	Weak transcription	Lung	lung
2	chr7:33066800-33100800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:33071200-33099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:33076200-33093200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:33079800-33090000	Weak transcription	Brain Angular Gyrus	brain
6	chr7:33079800-33100200	Weak transcription	Brain Substantia Nigra	brain
7	chr7:33079800-33100800	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:33080200-33093400	Weak transcription	HUVEC	blood vessel
9	chr7:33080800-33100600	Weak transcription	HSMM	muscle
10	chr7:33081000-33089800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:33081000-33089800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:33081000-33089800	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:33081000-33090000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:33081000-33093000	Weak transcription	Dnd41	blood
15	chr7:33081000-33100200	Weak transcription	Fetal Stomach	stomach
16	chr7:33081200-33089600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:33081200-33089800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:33081200-33093600	Weak transcription	HMEC	breast
19	chr7:33081600-33089800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:33081800-33094600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:33082800-33089800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:33083800-33089600	Weak transcription	Right Atrium	heart
23	chr7:33083800-33089800	Weak transcription	Brain Anterior Caudate	brain
24	chr7:33083800-33098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:33083800-33098400	Weak transcription	Ovary	ovary
26	chr7:33084000-33089800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:33084400-33096200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:33084600-33089800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:33084800-33089600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:33084800-33089800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:33084800-33089800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:33084800-33090000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:33084800-33090000	Weak transcription	Fetal Heart	heart
34	chr7:33084800-33090000	Weak transcription	Fetal Intestine Large	intestine
35	chr7:33084800-33090000	Weak transcription	K562	blood
36	chr7:33085000-33089600	Weak transcription	Adipose Nuclei	Adipose
37	chr7:33085000-33089600	Weak transcription	NHEK	skin
38	chr7:33085000-33089800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:33085000-33089800	Weak transcription	NHDF-Ad	bronchial
40	chr7:33085000-33090000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:33085000-33090000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:33085000-33090000	Weak transcription	HepG2	liver
43	chr7:33085000-33090200	Weak transcription	Fetal Kidney	kidney
44	chr7:33085000-33099000	Weak transcription	Hela-S3	cervix
45	chr7:33085000-33100200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:33085000-33100400	Weak transcription	Osteobl	bone
47	chr7:33085800-33089800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:33085800-33099600	Weak transcription	Spleen	Spleen
49	chr7:33085800-33101000	Weak transcription	Left Ventricle	heart
50	chr7:33086200-33089600	Weak transcription	Rectal Mucosa Donor 31	rectum

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