Variant report

Variant	rs60303023
Chromosome Location	chr2:48122891-48122892
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48114532..48117507-chr2:48121095..48123426,3	MCF-7	breast:
2	chr2:48115404..48116936-chr2:48122122..48124133,2	K562	blood:
3	chr2:48122264..48126489-chr2:48130939..48134880,5	MCF-7	breast:
4	chr2:48094553..48096950-chr2:48122289..48123952,2	K562	blood:
5	chr2:48114924..48118921-chr2:48119790..48123112,4	K562	blood:
6	chr2:48120242..48124269-chr2:48131325..48134393,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233230	Chromatin interaction
ENSG00000138081	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10490303	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10495948	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17036952	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036971	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17037021	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17037040	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17037055	0.91[EUR][1000 genomes]
rs17037062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17037064	0.91[EUR][1000 genomes]
rs2134055	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2881863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3136242	1.00[AMR][1000 genomes]
rs3136274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3136286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4381823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56682209	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56881113	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58057481	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58552166	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59624704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60118201	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72876814	0.89[EUR][1000 genomes]
rs7560678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48095200-48127200	Weak transcription	Fetal Kidney	kidney
2	chr2:48095400-48129600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:48096000-48123400	Weak transcription	Esophagus	oesophagus
4	chr2:48097800-48123400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:48098400-48125000	Weak transcription	HUVEC	blood vessel
6	chr2:48098600-48129000	Weak transcription	Gastric	stomach
7	chr2:48098600-48129000	Weak transcription	Pancreas	Pancrea
8	chr2:48100600-48129200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:48101200-48123600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:48108600-48129800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:48109600-48123400	Weak transcription	Hela-S3	cervix
12	chr2:48110200-48125200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:48110600-48123400	Weak transcription	HepG2	liver
14	chr2:48110600-48127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:48110600-48130800	Weak transcription	Fetal Thymus	thymus
16	chr2:48111000-48130800	Weak transcription	Thymus	Thymus
17	chr2:48111600-48127000	Weak transcription	Fetal Intestine Large	intestine
18	chr2:48112800-48127200	Weak transcription	Right Atrium	heart
19	chr2:48114000-48124000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:48114400-48129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:48114400-48130600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:48115000-48131000	Weak transcription	Stomach Mucosa	stomach
23	chr2:48115200-48123200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:48115200-48123400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:48115200-48123400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:48115200-48123400	Weak transcription	Lung	lung
27	chr2:48115200-48123600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:48115200-48124400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:48115200-48131400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:48115400-48125200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:48115400-48125600	Weak transcription	Dnd41	blood
32	chr2:48116200-48125200	Weak transcription	HSMM	muscle
33	chr2:48117000-48129200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:48117800-48125000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:48118000-48127000	Weak transcription	Placenta	Placenta
36	chr2:48118200-48123400	Weak transcription	Fetal Stomach	stomach
37	chr2:48118200-48127200	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:48118200-48131000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:48118400-48123000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:48118400-48123000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:48118400-48123600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:48118400-48125600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:48118400-48127600	Enhancers	Primary T cells from cord blood	blood
44	chr2:48118600-48127000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:48119000-48127800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:48119600-48123200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:48119600-48124200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:48119600-48127200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:48119600-48130200	Weak transcription	HMEC	breast
50	chr2:48119800-48123400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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