Variant report

Variant	rs73395975
Chromosome Location	chr7:99729508-99729509
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99726058..99730231-chr7:99754511..99757895,5	MCF-7	breast:
2	chr7:99728822..99730642-chr7:99819093..99820968,2	K562	blood:
3	chr7:99728922..99730445-chr7:99745167..99747746,2	K562	blood:
4	chr7:99729211..99731668-chr7:99733753..99735530,2	K562	blood:
5	chr7:99727332..99729925-chr7:99816500..99818908,2	MCF-7	breast:
6	chr7:99728795..99730415-chr7:99755872..99757561,2	K562	blood:

Variant related genes	Relation type
ENSG00000222482	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000213413	Chromatin interaction
ENSG00000146826	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4134907	1.00[AMR][1000 genomes]
rs4134908	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4134921	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56695509	1.00[AMR][1000 genomes]
rs59991229	1.00[AMR][1000 genomes]
rs60551236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60594059	1.00[AMR][1000 genomes]
rs73395916	1.00[AMR][1000 genomes]
rs73395928	1.00[AMR][1000 genomes]
rs73395997	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397503	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411443	1.00[AMR][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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99726200-99730000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:99726400-99730400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:99726400-99730400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:99726400-99730400	Weak transcription	Spleen	Spleen
5	chr7:99728000-99730400	Enhancers	Placenta	Placenta
6	chr7:99728600-99730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:99728800-99729600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:99728800-99729800	Active TSS	Duodenum Mucosa	Duodenum
9	chr7:99728800-99729800	Weak transcription	Esophagus	oesophagus
10	chr7:99728800-99729800	Weak transcription	Fetal Thymus	thymus
11	chr7:99728800-99729800	Weak transcription	Pancreas	Pancrea
12	chr7:99728800-99729800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:99728800-99729800	Weak transcription	K562	blood
14	chr7:99728800-99730000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:99728800-99730000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:99728800-99730000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:99728800-99730000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:99728800-99730000	Weak transcription	Fetal Stomach	stomach
19	chr7:99728800-99730000	Weak transcription	A549	lung
20	chr7:99728800-99730000	Weak transcription	Dnd41	blood
21	chr7:99728800-99730200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:99728800-99730200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:99728800-99730200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:99728800-99730200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:99728800-99730200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:99728800-99730200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:99728800-99730200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:99728800-99730200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:99728800-99730200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:99728800-99730200	Weak transcription	Thymus	Thymus
31	chr7:99728800-99730200	Weak transcription	GM12878-XiMat	blood
32	chr7:99728800-99730400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:99728800-99730400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:99728800-99730400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:99728800-99730400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:99728800-99730400	Weak transcription	Brain Angular Gyrus	brain
37	chr7:99728800-99730400	Weak transcription	Brain Anterior Caudate	brain
38	chr7:99728800-99730400	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:99728800-99730400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:99728800-99730400	Weak transcription	Brain Substantia Nigra	brain
41	chr7:99728800-99730400	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:99728800-99730400	Weak transcription	Fetal Intestine Large	intestine
43	chr7:99728800-99730400	Weak transcription	Stomach Mucosa	stomach
44	chr7:99728800-99730400	Weak transcription	HepG2	liver
45	chr7:99728800-99730400	Weak transcription	NHDF-Ad	bronchial
46	chr7:99728800-99730600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:99728800-99730600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:99728800-99730600	Weak transcription	Primary B cells from cord blood	blood
49	chr7:99728800-99730600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:99728800-99730600	Enhancers	Hela-S3	cervix

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