Variant report

Variant	rs73196904
Chromosome Location	chr7:112576622-112576623
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112567908..112571735-chr7:112573454..112577571,5	K562	blood:
2	chr7:112442436..112445188-chr7:112575668..112578638,2	K562	blood:
3	chr7:112573321..112577054-chr7:112577795..112579743,3	MCF-7	breast:
4	chr7:112574893..112577839-chr7:112578042..112580398,5	K562	blood:

Variant related genes	Relation type
ENSG00000164603	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10229725	0.87[EUR][1000 genomes]
rs12112310	0.87[EUR][1000 genomes]
rs28718671	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59695601	1.00[EUR][1000 genomes]
rs73195084	0.81[EUR][1000 genomes]
rs73195091	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73195102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73196909	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73196912	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73196915	1.00[EUR][1000 genomes]
rs73196918	0.87[EUR][1000 genomes]
rs7777041	0.87[EUR][1000 genomes]
rs7781785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7794808	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7798366	0.87[EUR][1000 genomes]
rs7800661	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised 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	10 gene(s)	inside rSNPs	diseases
6	esv3692941	chr7:112571420-112614215	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112541400-112578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:112551600-112577400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:112551600-112578600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:112551600-112579400	Weak transcription	Spleen	Spleen
5	chr7:112553800-112578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:112554000-112577200	Weak transcription	Primary B cells from cord blood	blood
7	chr7:112555400-112578000	Weak transcription	Adipose Nuclei	Adipose
8	chr7:112556800-112577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:112557000-112578600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:112563200-112578200	Weak transcription	HUVEC	blood vessel
11	chr7:112565200-112578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:112568400-112578200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:112570400-112578400	Weak transcription	NH-A	brain
14	chr7:112571200-112576800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:112571200-112577600	Weak transcription	NHLF	lung
16	chr7:112571200-112577800	Weak transcription	Thymus	Thymus
17	chr7:112571200-112577800	Weak transcription	K562	blood
18	chr7:112571200-112578200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:112571200-112578200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:112571400-112576800	Weak transcription	HMEC	breast
21	chr7:112571400-112577200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:112571400-112577200	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:112571400-112577400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:112571400-112578800	Weak transcription	Psoas Muscle	Psoas
25	chr7:112571600-112577400	Weak transcription	NHDF-Ad	bronchial
26	chr7:112571600-112578200	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:112571600-112578200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:112571600-112578800	Weak transcription	Small Intestine	intestine
29	chr7:112571800-112576800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:112571800-112576800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:112571800-112577200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:112571800-112577200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:112571800-112577400	Weak transcription	Brain Angular Gyrus	brain
34	chr7:112571800-112577400	Weak transcription	HepG2	liver
35	chr7:112571800-112577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:112571800-112577600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:112571800-112578200	Weak transcription	Brain Substantia Nigra	brain
38	chr7:112572000-112577200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:112572000-112577600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:112572200-112578400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:112572800-112577200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:112573000-112577200	Weak transcription	Primary T cells from cord blood	blood
43	chr7:112573200-112577600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:112573200-112578200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:112573200-112578200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:112573200-112578800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:112573200-112578800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:112573400-112578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:112573800-112577600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:112573800-112577600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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