Variant report

Variant	rs73342954
Chromosome Location	chr7:6478340-6478341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6477471..6480538-chr7:6480717..6482413,3	K562	blood:
2	chr7:6472532..6475025-chr7:6477721..6479595,2	MCF-7	breast:
3	chr7:6475431..6480249-chr7:6480514..6484908,6	MCF-7	breast:
4	chr7:6474528..6479669-chr7:6479864..6485085,5	MCF-7	breast:
5	chr7:6478323..6480538-chr7:6480717..6482413,2	K562	blood:
6	chr7:6475500..6479513-chr7:6485529..6489482,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164535	Chromatin interaction

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

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

rs_ID	r²[population]
rs11975705	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11979574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11980488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34300338	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34455743	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34463379	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57671027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58697275	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60393857	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66516944	1.00[AMR][1000 genomes]
rs73341299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342941	1.00[AFR][1000 genomes];1.00[AMR][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	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	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
8	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
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
2	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
3	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:6459600-6478400	Weak transcription	Psoas Muscle	Psoas
5	chr7:6464600-6481600	Weak transcription	Stomach Mucosa	stomach
6	chr7:6465000-6486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:6465800-6486400	Weak transcription	Colonic Mucosa	Colon
8	chr7:6466000-6481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:6466000-6486400	Weak transcription	Aorta	Aorta
10	chr7:6467600-6481400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:6472000-6481400	Weak transcription	Ovary	ovary
12	chr7:6472800-6481600	Weak transcription	Fetal Lung	lung
13	chr7:6474200-6481600	Weak transcription	Fetal Brain Male	brain
14	chr7:6474400-6481400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:6474400-6481400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:6474400-6481400	Weak transcription	Gastric	stomach
17	chr7:6474400-6481600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:6474600-6481400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:6474600-6481400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:6474600-6481400	Weak transcription	Lung	lung
21	chr7:6474600-6481400	Weak transcription	HMEC	breast
22	chr7:6474600-6481400	Weak transcription	NH-A	brain
23	chr7:6474600-6481600	Weak transcription	Spleen	Spleen
24	chr7:6474800-6478400	Weak transcription	Fetal Brain Female	brain
25	chr7:6474800-6479000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:6474800-6479000	Weak transcription	Fetal Intestine Large	intestine
27	chr7:6474800-6481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:6474800-6481400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:6474800-6481400	Weak transcription	NHLF	lung
30	chr7:6475000-6479000	Weak transcription	Fetal Stomach	stomach
31	chr7:6475000-6479400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:6475200-6479200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:6475200-6480600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:6475400-6478400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:6475400-6478600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:6475400-6478800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:6475400-6480600	Weak transcription	Brain Germinal Matrix	brain
38	chr7:6475400-6481200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:6475400-6481400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:6475400-6481400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:6475400-6481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:6475400-6481400	Weak transcription	Pancreas	Pancrea
43	chr7:6475400-6481400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:6475400-6481800	Weak transcription	Brain Angular Gyrus	brain
45	chr7:6475400-6483200	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:6475400-6483400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:6475400-6484400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:6475600-6479000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:6475600-6480000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:6475600-6481600	Weak transcription	Brain Anterior Caudate	brain

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