Variant report

Variant	rs60526073
Chromosome Location	chr7:139478764-139478765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:139477699-139478790	A549	lung:	n/a	n/a
2	RAD21	chr7:139477870-139479102	IMR90	lung:	n/a	n/a
3	YY1	chr7:139476538-139479022	SK-N-SH	brain:	n/a	chr7:139477424-139477435 chr7:139477529-139477543 chr7:139477955-139477969 chr7:139477902-139477921 chr7:139477412-139477432 chr7:139477226-139477240 chr7:139477901-139477921 chr7:139477535-139477546 chr7:139477507-139477515 chr7:139477989-139478000
4	MAX	chr7:139477647-139478860	A549	lung:	n/a	n/a
5	PML	chr7:139477687-139478796	GM12878	blood:	n/a	n/a
6	ZNF263	chr7:139477949-139478766	HEK293-T-REx	kidney:	n/a	chr7:139478317-139478338
7	MXI1	chr7:139474826-139479222	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr7:139478063-139478795	SK-N-SH_RA	brain:	n/a	n/a
9	MXI1	chr7:139473683-139479282	IMR90	lung:	n/a	n/a
10	MAZ	chr7:139476227-139479595	IMR90	lung:	n/a	chr7:139477444-139477453 chr7:139477485-139477495 chr7:139477257-139477267
11	MAX	chr7:139477709-139478781	K562	blood:	n/a	n/a
12	KAP1	chr7:139478003-139478787	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26158181..26160251-chr7:139476447..139479207,2	K562	blood:
2	chr7:139476813..139479584-chr7:139529025..139531896,2	MCF-7	breast:
3	chr7:139478498..139480107-chr7:139674216..139675922,2	K562	blood:

Variant related genes	Relation type
HIPK2	TF binding region
ENSG00000158373	Chromatin interaction
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10228448	0.83[AFR][1000 genomes]
rs10228830	0.87[AFR][1000 genomes]
rs10257315	0.89[AFR][1000 genomes]
rs10257659	0.89[AFR][1000 genomes]
rs10261622	0.90[AFR][1000 genomes]
rs10261757	0.90[AFR][1000 genomes]
rs10274540	0.90[AFR][1000 genomes]
rs6947799	0.83[AFR][1000 genomes]
rs6963553	0.90[AFR][1000 genomes]
rs6964028	0.90[AFR][1000 genomes]
rs6972460	0.89[AFR][1000 genomes]
rs73735621	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7455629	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7810177	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3442657	chr7:139476008-139478856	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3374483	chr7:139476358-139478831	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139475400-139478800	Active TSS	Aorta	Aorta
2	chr7:139475400-139478800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:139475600-139478800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:139475600-139478800	Active TSS	Left Ventricle	heart
5	chr7:139475600-139478800	Active TSS	Psoas Muscle	Psoas
6	chr7:139475600-139479000	Active TSS	NHLF	lung
7	chr7:139475800-139478800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:139475800-139478800	Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:139475800-139478800	Active TSS	Esophagus	oesophagus
10	chr7:139475800-139478800	Active TSS	HSMM	muscle
11	chr7:139475800-139478800	Active TSS	NH-A	brain
12	chr7:139475800-139479000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:139475800-139479000	Active TSS	Ovary	ovary
14	chr7:139476000-139478800	Active TSS	Hela-S3	cervix
15	chr7:139476200-139479000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:139476200-139479200	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:139476400-139478800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr7:139476400-139479000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:139478000-139478800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:139478000-139478800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr7:139478000-139479000	Active TSS	Fetal Kidney	kidney
22	chr7:139478200-139478800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:139478200-139478800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:139478200-139478800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr7:139478200-139478800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr7:139478200-139478800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:139478200-139478800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:139478200-139478800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:139478200-139478800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:139478200-139478800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr7:139478200-139478800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr7:139478200-139478800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
33	chr7:139478200-139479000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:139478200-139479000	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr7:139478200-139479000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:139478200-139479000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr7:139478200-139479000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr7:139478200-139479000	Flanking Active TSS	HMEC	breast
39	chr7:139478200-139479200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:139478200-139479200	Flanking Bivalent TSS/Enh	Dnd41	blood
41	chr7:139478400-139478800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr7:139478400-139478800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:139478400-139478800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:139478400-139478800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr7:139478400-139478800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr7:139478400-139478800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:139478400-139478800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:139478400-139478800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr7:139478400-139478800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:139478400-139478800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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