Variant report

Variant	rs6463557
Chromosome Location	chr7:6479630-6479631
allele	A/C
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	chr7:6472621..6474361-chr7:6478935..6480630,2	MCF-7	breast:
3	chr7:6475431..6480249-chr7:6480514..6484908,6	MCF-7	breast:
4	chr7:6479621..6482383-chr7:6485568..6487663,2	MCF-7	breast:
5	chr7:6475514..6477086-chr7:6478544..6480685,2	K562	blood:
6	chr7:6474528..6479669-chr7:6479864..6485085,5	MCF-7	breast:
7	chr7:6478323..6480538-chr7:6480717..6482413,2	K562	blood:

Variant related genes	Relation type
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12666600	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12670104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12670121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12673012	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12673652	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13237786	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2272156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2288152	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5020305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55695740	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61211132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6944712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6945053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6945450	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72583273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72583274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7797088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836560	0.86[EUR][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	chr7:6464600-6481600	Weak transcription	Stomach Mucosa	stomach
5	chr7:6465000-6486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:6465800-6486400	Weak transcription	Colonic Mucosa	Colon
7	chr7:6466000-6481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:6466000-6486400	Weak transcription	Aorta	Aorta
9	chr7:6467600-6481400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:6472000-6481400	Weak transcription	Ovary	ovary
11	chr7:6472800-6481600	Weak transcription	Fetal Lung	lung
12	chr7:6474200-6481600	Weak transcription	Fetal Brain Male	brain
13	chr7:6474400-6481400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:6474400-6481400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:6474400-6481400	Weak transcription	Gastric	stomach
16	chr7:6474400-6481600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:6474600-6481400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:6474600-6481400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:6474600-6481400	Weak transcription	Lung	lung
20	chr7:6474600-6481400	Weak transcription	HMEC	breast
21	chr7:6474600-6481400	Weak transcription	NH-A	brain
22	chr7:6474600-6481600	Weak transcription	Spleen	Spleen
23	chr7:6474800-6481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:6474800-6481400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:6474800-6481400	Weak transcription	NHLF	lung
26	chr7:6475200-6480600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:6475400-6480600	Weak transcription	Brain Germinal Matrix	brain
28	chr7:6475400-6481200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:6475400-6481400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:6475400-6481400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:6475400-6481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:6475400-6481400	Weak transcription	Pancreas	Pancrea
33	chr7:6475400-6481400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:6475400-6481800	Weak transcription	Brain Angular Gyrus	brain
35	chr7:6475400-6483200	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:6475400-6483400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:6475400-6484400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:6475600-6480000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:6475600-6481600	Weak transcription	Brain Anterior Caudate	brain
40	chr7:6475600-6481600	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:6475600-6481600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:6475600-6481600	Weak transcription	Brain Substantia Nigra	brain
43	chr7:6476000-6480000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:6476000-6481200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:6476000-6481400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:6476000-6481600	Weak transcription	NHDF-Ad	bronchial
47	chr7:6476000-6482000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:6476000-6484200	Weak transcription	K562	blood
49	chr7:6476200-6481400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:6476200-6481400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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