Variant report

Variant	rs4729596
Chromosome Location	chr7:100220815-100220816
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100218530..100221073-chr7:100222158..100224268,4	K562	blood:
2	chr7:100218740..100221055-chr7:100222082..100224526,2	MCF-7	breast:
3	chr7:100206101..100213131-chr7:100214394..100226559,23	K562	blood:
4	chr7:100219987..100221784-chr7:100222559..100224776,2	MCF-7	breast:
5	chr7:100209281..100214029-chr7:100217234..100224358,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106330	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10247962	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12673102	0.93[EUR][1000 genomes]
rs4727457	0.83[EUR][1000 genomes]
rs4729600	0.83[EUR][1000 genomes]
rs4988606	0.86[EUR][1000 genomes]
rs7457868	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
3	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
4	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
5	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100210600-100224400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:100211000-100223800	Weak transcription	Fetal Kidney	kidney
3	chr7:100211000-100224600	Weak transcription	Small Intestine	intestine
4	chr7:100211200-100221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:100211200-100221800	Weak transcription	HSMMtube	muscle
6	chr7:100211200-100223800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:100211200-100224000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:100211200-100224000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:100211200-100224000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:100211200-100224000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:100211200-100224000	Weak transcription	Lung	lung
12	chr7:100211200-100224000	Weak transcription	Psoas Muscle	Psoas
13	chr7:100211200-100224000	Weak transcription	Right Ventricle	heart
14	chr7:100211200-100224400	Weak transcription	Left Ventricle	heart
15	chr7:100211400-100221800	Weak transcription	Esophagus	oesophagus
16	chr7:100211400-100223400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:100211400-100223800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:100211400-100224000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:100211400-100224000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:100211400-100224000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:100211400-100224000	Weak transcription	Colonic Mucosa	Colon
22	chr7:100211400-100224000	Weak transcription	HSMM	muscle
23	chr7:100211400-100224000	Weak transcription	HUVEC	blood vessel
24	chr7:100211400-100224600	Weak transcription	Spleen	Spleen
25	chr7:100211400-100230400	Weak transcription	Pancreas	Pancrea
26	chr7:100211800-100223800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:100211800-100223800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:100211800-100224000	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:100212000-100223600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:100212000-100223600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:100212000-100223600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:100212000-100223800	Weak transcription	Fetal Brain Male	brain
33	chr7:100212200-100221800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:100212200-100223800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:100212200-100223800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:100212200-100223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:100212200-100224000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:100212600-100223400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:100212600-100224400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:100212800-100221800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:100212800-100224000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:100212800-100224000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:100213200-100223600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:100213400-100223800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:100213600-100223800	Weak transcription	Fetal Lung	lung
46	chr7:100214600-100224000	Weak transcription	Gastric	stomach
47	chr7:100216000-100221800	Weak transcription	Hela-S3	cervix
48	chr7:100218600-100221200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:100218600-100223400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:100218800-100221800	Weak transcription	Placenta Amnion	Placenta Amnion

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