Variant report

Variant	rs6948691
Chromosome Location	chr7:6724754-6724755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6723454..6727704-chr7:6728321..6732578,5	K562	blood:
2	chr7:6715674..6717325-chr7:6724359..6726574,2	K562	blood:
3	chr7:6689485..6692014-chr7:6722455..6725146,3	MCF-7	breast:
4	chr7:6723810..6726047-chr7:6741639..6744334,2	K562	blood:
5	chr7:6722511..6725045-chr7:6726995..6728579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265245	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10255119	0.83[EUR][1000 genomes]
rs10271259	0.85[EUR][1000 genomes]
rs10951991	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537448	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12673800	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1464922	0.91[EUR][1000 genomes]
rs1464923	0.94[EUR][1000 genomes]
rs3735302	0.94[EUR][1000 genomes]
rs3757483	0.82[EUR][1000 genomes]
rs3801033	0.81[ASN][1000 genomes]
rs3801034	0.81[ASN][1000 genomes]
rs3801036	0.83[ASN][1000 genomes]
rs3801038	0.84[ASN][1000 genomes]
rs3801039	0.84[ASN][1000 genomes]
rs56257118	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58569329	0.85[EUR][1000 genomes]
rs58738503	0.83[EUR][1000 genomes]
rs60514449	0.82[EUR][1000 genomes]
rs62439670	0.85[EUR][1000 genomes]
rs62439674	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62439695	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62439697	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62441324	0.83[EUR][1000 genomes]
rs6463576	0.82[EUR][1000 genomes]
rs6964079	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965641	0.94[EUR][1000 genomes]
rs6969066	0.82[EUR][1000 genomes]
rs6971621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6974325	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7791734	0.82[ASN][1000 genomes]
rs7808550	0.88[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	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
2	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
3	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
4	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6712200-6739400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr7:6712400-6744000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:6714000-6726000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:6718600-6742600	ZNF genes & repeats	Liver	Liver
5	chr7:6721400-6724800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr7:6721400-6745200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr7:6721600-6724800	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr7:6721600-6740800	ZNF genes & repeats	Fetal Brain Female	brain
9	chr7:6721600-6743800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr7:6721600-6744600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:6721800-6740800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr7:6721800-6744000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:6722200-6729000	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr7:6722200-6741400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr7:6722400-6724800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:6722400-6745000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr7:6722600-6725400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:6722600-6739400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr7:6722600-6745000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:6723000-6727400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:6723200-6725400	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr7:6723400-6725400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:6723400-6726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:6723600-6739400	ZNF genes & repeats	HSMMtube	muscle
26	chr7:6723600-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:6723600-6745400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:6723800-6745000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:6724000-6724800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:6724000-6744800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:6724200-6725000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:6724200-6726200	Weak transcription	Fetal Lung	lung
33	chr7:6724200-6726200	Weak transcription	Ovary	ovary
34	chr7:6724400-6724800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr7:6724400-6727400	Weak transcription	Brain Substantia Nigra	brain
36	chr7:6724400-6727800	ZNF genes & repeats	Fetal Thymus	thymus
37	chr7:6724400-6727800	Weak transcription	HepG2	liver
38	chr7:6724600-6725200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:6724600-6726000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:6724600-6726000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:6724600-6726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:6724600-6726200	Weak transcription	Brain Angular Gyrus	brain
43	chr7:6724600-6726200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:6724600-6727400	Weak transcription	Brain Cingulate Gyrus	brain

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