Variant report

Variant	rs73304344
Chromosome Location	chr7:12750828-12750829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12725982..12739416-chr7:12748956..12757396,41	K562	blood:
2	chr7:12750130..12753883-chr7:12807710..12810536,3	K562	blood:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10247027	0.86[ASN][1000 genomes]
rs10258061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278922	0.86[ASN][1000 genomes]
rs1990205	0.85[ASN][1000 genomes]
rs2190636	0.81[ASN][1000 genomes]
rs73304348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12746800-12755000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:12747000-12752000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:12747000-12753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:12747000-12753400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:12747000-12755000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:12747000-12755000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:12747000-12755000	Weak transcription	NH-A	brain
8	chr7:12747200-12751800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:12747200-12753600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:12747400-12753400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:12747400-12753400	Weak transcription	Stomach Mucosa	stomach
12	chr7:12749000-12751000	Enhancers	Fetal Intestine Large	intestine
13	chr7:12749400-12751400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:12749600-12751000	Enhancers	Fetal Intestine Small	intestine
15	chr7:12749600-12753400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:12749800-12751600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:12750000-12752800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:12750000-12753000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:12750000-12754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:12750000-12754800	Weak transcription	Osteobl	bone
21	chr7:12750000-12755200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:12750200-12751000	Enhancers	Placenta	Placenta
23	chr7:12750200-12752800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:12750200-12753000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:12750200-12753400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:12750200-12753600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:12750200-12755000	Weak transcription	NHEK	skin
28	chr7:12750400-12754800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:12750600-12751800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:12750600-12752000	Weak transcription	Hela-S3	cervix
31	chr7:12750600-12753200	Weak transcription	HMEC	breast
32	chr7:12750600-12754800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:12750600-12755000	Weak transcription	Brain Substantia Nigra	brain
34	chr7:12750600-12755000	Weak transcription	HSMMtube	muscle
35	chr7:12750600-12755000	Weak transcription	NHDF-Ad	bronchial
36	chr7:12750800-12751000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:12750800-12751000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:12750800-12751000	Enhancers	Spleen	Spleen
39	chr7:12750800-12751200	Flanking Active TSS	A549	lung
40	chr7:12750800-12752200	ZNF genes & repeats	K562	blood
41	chr7:12750800-12753000	Weak transcription	Small Intestine	intestine
42	chr7:12750800-12754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:12750800-12754800	Weak transcription	HSMM	muscle
44	chr7:12750800-12755000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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