Variant report

Variant	rs7593530
Chromosome Location	chr2:73207459-73207460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73202655..73205127-chr2:73205288..73207523,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56996879	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60292098	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61426399	1.00[EUR][1000 genomes]
rs6546799	0.91[YRI][hapmap]
rs6712130	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6753198	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916266	1.00[EUR][1000 genomes]
rs72916280	1.00[EUR][1000 genomes]
rs72918394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918398	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920409	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72920414	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920429	0.85[AFR][1000 genomes]
rs72920431	0.83[AFR][1000 genomes]
rs72920444	0.80[AFR][1000 genomes]
rs7560421	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599245	0.85[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 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	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:73166200-73210000	Weak transcription	Colonic Mucosa	Colon
3	chr2:73168800-73226800	Weak transcription	NHLF	lung
4	chr2:73169200-73210600	Weak transcription	Pancreas	Pancrea
5	chr2:73169800-73210000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:73171200-73209400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:73177400-73209800	Weak transcription	Esophagus	oesophagus
9	chr2:73177400-73215200	Weak transcription	Osteobl	bone
10	chr2:73178000-73214800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:73181800-73215200	Weak transcription	Thymus	Thymus
12	chr2:73182800-73213000	Weak transcription	Fetal Lung	lung
13	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:73185000-73214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:73188000-73209600	Weak transcription	Right Atrium	heart
16	chr2:73188800-73211600	Weak transcription	Primary T cells from cord blood	blood
17	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:73191400-73208000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:73191600-73209800	Weak transcription	Aorta	Aorta
20	chr2:73193400-73210200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:73193600-73208200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:73193600-73221200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:73194400-73207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:73194400-73210400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:73194400-73211400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:73194600-73209800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:73194600-73210600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:73195200-73210400	Weak transcription	Fetal Intestine Large	intestine
30	chr2:73195600-73210000	Weak transcription	Fetal Stomach	stomach
31	chr2:73197400-73210000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:73198600-73220000	Weak transcription	Small Intestine	intestine
33	chr2:73198800-73209600	Weak transcription	Lung	lung
34	chr2:73199600-73209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:73199600-73209600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:73199600-73209800	Weak transcription	Gastric	stomach
37	chr2:73199600-73210000	Weak transcription	Brain Substantia Nigra	brain
38	chr2:73199600-73210000	Weak transcription	HepG2	liver
39	chr2:73200800-73210200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:73201000-73208000	Weak transcription	Right Ventricle	heart
41	chr2:73201200-73209600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:73201400-73208800	Weak transcription	Fetal Intestine Small	intestine
43	chr2:73201800-73210800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:73202200-73208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:73202400-73208000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:73202600-73207800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:73202600-73209600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:73203000-73207800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:73203000-73208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:73203000-73209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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