Variant report

Variant	rs7591326
Chromosome Location	chr2:39740478-39740479
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	CTCF	chr2:39740055-39741404	A549	lung:	n/a	chr2:39740968-39740984 chr2:39740970-39740983 chr2:39740967-39740985 chr2:39740970-39740979
2	MAZ	chr2:39740322-39741532	IMR90	lung:	n/a	n/a
3	MBD4	chr2:39740401-39741181	HepG2	liver:	n/a	n/a
4	SMC3	chr2:39739985-39741494	SK-N-SH	brain:	n/a	chr2:39740969-39740983
5	GATA1	chr2:39738273-39741947	K562	blood:	n/a	chr2:39739122-39739135 chr2:39739125-39739142 chr2:39740191-39740199 chr2:39739123-39739133 chr2:39741274-39741281 chr2:39739124-39739133 chr2:39738906-39738915 chr2:39739124-39739131 chr2:39739075-39739096 chr2:39738948-39738958
6	RAD21	chr2:39740181-39741255	IMR90	lung:	n/a	chr2:39740968-39740987
7	CTCF	chr2:39740420-39740570	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:39738702..39740814-chr2:39742603..39745081,2	MCF-7	breast:
2	chr2:39662573..39664202-chr2:39738821..39741104,2	K562	blood:
3	chr2:39733398..39735108-chr2:39738598..39740561,2	K562	blood:
4	chr2:39740456..39741440-chr2:39923994..39925288,5	MCF-7	breast:
5	chr2:39739040..39741917-chr2:40004865..40006467,2	K562	blood:
6	chr2:39661305..39663930-chr2:39740460..39742003,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	TF binding region
ENSG00000231312	Chromatin interaction
ENSG00000152154	Chromatin interaction
ENSG00000138050	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10210842	0.80[ASN][1000 genomes]
rs11124685	0.85[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11124686	0.89[ASN][1000 genomes]
rs1526024	0.87[ASN][1000 genomes]
rs6741839	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6753798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs714855	0.82[ASN][1000 genomes]
rs7577879	0.93[CEU][hapmap]
rs7585512	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
2	chr2:39724800-39750600	Weak transcription	Gastric	stomach
3	chr2:39731000-39741400	Enhancers	Fetal Stomach	stomach
4	chr2:39731200-39741400	Enhancers	Fetal Lung	lung
5	chr2:39732400-39740600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:39732400-39740800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:39732800-39741400	Enhancers	NHLF	lung
8	chr2:39733000-39743600	Weak transcription	Hela-S3	cervix
9	chr2:39733600-39741400	Enhancers	Colon Smooth Muscle	Colon
10	chr2:39733800-39741600	Enhancers	Fetal Kidney	kidney
11	chr2:39734200-39741400	Enhancers	Rectal Smooth Muscle	rectum
12	chr2:39734600-39745000	Enhancers	Adipose Nuclei	Adipose
13	chr2:39734600-39746000	Enhancers	Fetal Heart	heart
14	chr2:39735000-39744800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:39736400-39741200	Enhancers	Fetal Intestine Small	intestine
16	chr2:39736400-39741600	Enhancers	Ovary	ovary
17	chr2:39736400-39741800	Enhancers	HepG2	liver
18	chr2:39736400-39742000	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:39736400-39745000	Enhancers	Right Atrium	heart
20	chr2:39736400-39745000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:39736600-39741800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:39736800-39741600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:39737000-39744800	Enhancers	Fetal Muscle Leg	muscle
24	chr2:39737000-39745000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:39737200-39741600	Enhancers	Placenta	Placenta
26	chr2:39737400-39743000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:39738000-39745000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:39738200-39741400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:39738200-39741400	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:39738200-39741600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:39738200-39741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:39738200-39741600	Enhancers	NHDF-Ad	bronchial
33	chr2:39738400-39740600	Enhancers	Colonic Mucosa	Colon
34	chr2:39738400-39741400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:39738400-39741400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:39738400-39741400	Enhancers	Psoas Muscle	Psoas
37	chr2:39738400-39741600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:39738400-39741600	Enhancers	Stomach Mucosa	stomach
39	chr2:39738400-39741800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:39738400-39741800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:39738400-39742000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:39738800-39740600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:39738800-39740800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr2:39738800-39740800	Weak transcription	Lung	lung
45	chr2:39738800-39741400	Weak transcription	Spleen	Spleen
46	chr2:39738800-39741600	Enhancers	Osteobl	bone
47	chr2:39738800-39741800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:39738800-39743000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:39738800-39743000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:39739000-39740800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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