Variant report

Variant	rs73735623
Chromosome Location	chr7:139479041-139479042
allele	G/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	RAD21	chr7:139477870-139479102	IMR90	lung:	n/a	n/a
2	MXI1	chr7:139474826-139479222	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr7:139473683-139479282	IMR90	lung:	n/a	n/a
4	MAZ	chr7:139476227-139479595	IMR90	lung:	n/a	chr7:139477444-139477453 chr7:139477485-139477495 chr7:139477257-139477267
5	STAT3	chr7:139478977-139479213	MCF10A-Er-Src	breast:	n/a	chr7:139479153-139479165

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
ENSG00000059377	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10273177	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281682	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17161128	0.86[AFR][1000 genomes]
rs28530639	0.86[AFR][1000 genomes]
rs28714444	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55700662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56086211	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60258209	0.92[AFR][1000 genomes]
rs6947792	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6950459	0.86[AFR][1000 genomes]
rs6954520	0.86[AFR][1000 genomes]
rs73735619	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73735622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735625	0.87[AFR][1000 genomes]
rs73735628	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139476200-139479200	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr7:139478200-139479200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:139478200-139479200	Flanking Bivalent TSS/Enh	Dnd41	blood
4	chr7:139478400-139479200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:139478400-139479200	Flanking Active TSS	Fetal Brain Male	brain
6	chr7:139478400-139479200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr7:139478600-139479200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:139478600-139479200	Enhancers	Liver	Liver
9	chr7:139478600-139483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:139478600-139483400	Weak transcription	Gastric	stomach
11	chr7:139478600-139485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:139478800-139479200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:139478800-139479200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:139478800-139479200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:139478800-139479200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
16	chr7:139478800-139479200	Enhancers	Brain Anterior Caudate	brain
17	chr7:139478800-139479200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:139478800-139479200	Enhancers	Brain Substantia Nigra	brain
19	chr7:139478800-139479200	Enhancers	Fetal Stomach	stomach
20	chr7:139478800-139479200	Bivalent Enhancer	Fetal Thymus	thymus
21	chr7:139478800-139479200	Enhancers	Right Atrium	heart
22	chr7:139478800-139479200	Enhancers	Right Ventricle	heart
23	chr7:139478800-139479200	Enhancers	Stomach Mucosa	stomach
24	chr7:139478800-139479200	Enhancers	HepG2	liver
25	chr7:139478800-139479400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:139478800-139479400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:139478800-139479400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:139478800-139479400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:139478800-139479400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:139478800-139479400	Enhancers	Fetal Lung	lung
31	chr7:139478800-139479400	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr7:139478800-139479600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr7:139478800-139479800	Enhancers	NHEK	skin
34	chr7:139478800-139480400	Weak transcription	Left Ventricle	heart
35	chr7:139478800-139482600	Enhancers	Esophagus	oesophagus
36	chr7:139478800-139483000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:139478800-139485600	Weak transcription	Aorta	Aorta
38	chr7:139479000-139479200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:139479000-139479200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
40	chr7:139479000-139479200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr7:139479000-139479200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:139479000-139479200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:139479000-139479200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:139479000-139479200	Enhancers	Adipose Nuclei	Adipose
45	chr7:139479000-139479200	Enhancers	Fetal Brain Female	brain
46	chr7:139479000-139479200	Bivalent Enhancer	Fetal Heart	heart
47	chr7:139479000-139479200	Flanking Active TSS	Fetal Kidney	kidney
48	chr7:139479000-139479200	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr7:139479000-139479200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr7:139479000-139479200	Enhancers	A549	lung

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