Variant report

Variant	rs72611553
Chromosome Location	chr7:140090254-140090255
allele	A/G
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	RUNX3	chr7:140089902-140091049	GM12878	blood:	n/a	n/a
2	ATF2	chr7:140090193-140091037	GM12878	blood:	n/a	n/a
3	RUNX3	chr7:140090231-140091144	GM12878	blood:	n/a	n/a
4	MTA3	chr7:140090247-140091120	GM12878	blood:	n/a	n/a
5	CTCF	chr7:140090120-140090270	GM12864	blood:	n/a	n/a
6	ZEB1	chr7:140090165-140090660	GM12878	blood:	n/a	n/a
7	NFIC	chr7:140090131-140091061	GM12878	blood:	n/a	n/a
8	STAT5A	chr7:140090216-140091048	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140089947..140093642-chr7:140094794..140098474,3	MCF-7	breast:
2	chr7:139234225..139236433-chr7:140089935..140091849,2	K562	blood:

Variant related genes	Relation type
RNA5SP248	TF binding region
ENSG00000157800	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11761131	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4133258	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55953323	0.80[AMR][1000 genomes]
rs56402448	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs66646584	0.80[AMR][1000 genomes]
rs67892123	0.81[AMR][1000 genomes]
rs72611554	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72611555	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72611556	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
2	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:140058600-140096000	Weak transcription	Small Intestine	intestine
4	chr7:140058800-140097200	Weak transcription	Brain Anterior Caudate	brain
5	chr7:140059400-140091400	Weak transcription	Fetal Heart	heart
6	chr7:140069600-140091800	Weak transcription	Esophagus	oesophagus
7	chr7:140076800-140096200	Weak transcription	NHLF	lung
8	chr7:140080200-140095800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:140080200-140096000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:140080200-140097200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:140080200-140097200	Weak transcription	HSMMtube	muscle
12	chr7:140080200-140097600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:140080600-140090400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:140080600-140096200	Weak transcription	HepG2	liver
15	chr7:140080600-140097400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:140080800-140090600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:140080800-140096200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:140081400-140097200	Weak transcription	Brain Germinal Matrix	brain
19	chr7:140081800-140093000	Weak transcription	Fetal Intestine Small	intestine
20	chr7:140082200-140093000	Weak transcription	Fetal Stomach	stomach
21	chr7:140082200-140096200	Weak transcription	Fetal Lung	lung
22	chr7:140082200-140097000	Weak transcription	Fetal Brain Female	brain
23	chr7:140082200-140097400	Weak transcription	Right Ventricle	heart
24	chr7:140082400-140090400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:140082400-140090400	Weak transcription	Thymus	Thymus
26	chr7:140082400-140090400	Weak transcription	NHDF-Ad	bronchial
27	chr7:140082400-140092800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:140082400-140093000	Weak transcription	Lung	lung
29	chr7:140082400-140093200	Weak transcription	Left Ventricle	heart
30	chr7:140082400-140095800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:140082400-140096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:140082400-140096000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:140082400-140096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:140082400-140096600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:140082400-140096600	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:140082400-140097000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:140082400-140097200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:140082400-140097200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:140082400-140097400	Weak transcription	Fetal Intestine Large	intestine
40	chr7:140082400-140097400	Weak transcription	Ovary	ovary
41	chr7:140082600-140090400	Weak transcription	Osteobl	bone
42	chr7:140084600-140096000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:140084800-140093000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:140085000-140093000	Weak transcription	NHEK	skin
45	chr7:140085600-140090400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:140085600-140091600	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:140086200-140097200	Weak transcription	Psoas Muscle	Psoas
48	chr7:140086600-140092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:140086600-140096000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:140086800-140092800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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