Variant report

Variant	rs28498420
Chromosome Location	chr7:6728011-6728012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr7:6727365-6733507	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6727828..6730097-chr7:6741325..6744372,3	MCF-7	breast:
2	chr7:6726067..6728328-chr7:6731078..6732845,2	K562	blood:
3	chr7:6722511..6725045-chr7:6726995..6728579,2	MCF-7	breast:
4	chr7:6726209..6728579-chr7:6744793..6746329,2	MCF-7	breast:
5	chr7:6718119..6720452-chr7:6726209..6729204,2	K562	blood:
6	chr7:6726384..6728536-chr7:6745725..6747714,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265245	TF binding region
ENSG00000164631	Chromatin interaction
ENSG00000265245	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10231608	0.80[AFR][1000 genomes]
rs10264948	0.80[AFR][1000 genomes]
rs10271995	0.93[AFR][1000 genomes]
rs28550197	0.97[AFR][1000 genomes]
rs56757337	0.81[EUR][1000 genomes]
rs56851516	0.81[EUR][1000 genomes]
rs56996912	0.81[EUR][1000 genomes]
rs60473522	0.81[EUR][1000 genomes]
rs61068758	0.81[EUR][1000 genomes]
rs61731528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6973331	0.81[EUR][1000 genomes]
rs7790579	0.81[EUR][1000 genomes]
rs7808982	0.81[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:123 , 50 per page) page: 1 2 3

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	chr7:6718600-6742600	ZNF genes & repeats	Liver	Liver
4	chr7:6721400-6745200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:6721600-6740800	ZNF genes & repeats	Fetal Brain Female	brain
6	chr7:6721600-6743800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr7:6721600-6744600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:6721800-6740800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr7:6721800-6744000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:6722200-6729000	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr7:6722200-6741400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr7:6722400-6745000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr7:6722600-6739400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr7:6722600-6745000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:6723600-6739400	ZNF genes & repeats	HSMMtube	muscle
17	chr7:6723600-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:6723600-6745400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:6723800-6745000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:6724000-6744800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:6725000-6739600	ZNF genes & repeats	HSMM	muscle
22	chr7:6725000-6741800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:6725000-6744800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:6725200-6739400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr7:6725800-6745000	ZNF genes & repeats	NH-A	brain
26	chr7:6726000-6729200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:6726000-6729200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:6726000-6730400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:6726000-6734600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:6726000-6735600	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr7:6726000-6736600	ZNF genes & repeats	Fetal Heart	heart
32	chr7:6726000-6739400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
33	chr7:6726000-6739400	ZNF genes & repeats	Osteobl	bone
34	chr7:6726000-6740600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr7:6726000-6741400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
36	chr7:6726000-6741600	ZNF genes & repeats	Dnd41	blood
37	chr7:6726000-6742200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr7:6726000-6743600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr7:6726000-6744800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr7:6726000-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:6726000-6745000	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr7:6726000-6745200	ZNF genes & repeats	A549	lung
43	chr7:6726200-6729200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr7:6726200-6729400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:6726200-6729400	ZNF genes & repeats	Ovary	ovary
46	chr7:6726200-6733600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:6726200-6734200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
48	chr7:6726200-6735400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:6726200-6735600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:6726200-6737600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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