Variant report

Variant	rs57381328
Chromosome Location	chr2:54820549-54820550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54783987..54787753-chr2:54814113..54820814,10	K562	blood:
2	chr2:54782515..54784267-chr2:54820223..54822640,2	MCF-7	breast:
3	chr2:54785168..54787003-chr2:54819314..54822161,2	K562	blood:
4	chr2:54815707..54819448-chr2:54820160..54824681,7	K562	blood:
5	chr2:54818759..54820876-chr2:54830874..54833017,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11888386	1.00[EUR][1000 genomes]
rs17046281	1.00[EUR][1000 genomes]
rs57623434	1.00[EUR][1000 genomes]
rs57749522	1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs59039394	1.00[EUR][1000 genomes]
rs60282658	1.00[EUR][1000 genomes]
rs60410507	1.00[EUR][1000 genomes]
rs6705313	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6714663	1.00[EUR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6743161	1.00[EUR][1000 genomes]
rs6751570	1.00[EUR][1000 genomes]
rs72906405	1.00[EUR][1000 genomes]
rs72906407	1.00[EUR][1000 genomes]
rs72906419	1.00[EUR][1000 genomes]
rs72906421	1.00[EUR][1000 genomes]
rs72906425	1.00[EUR][1000 genomes]
rs72906426	1.00[EUR][1000 genomes]
rs72911566	1.00[EUR][1000 genomes]
rs72911570	1.00[EUR][1000 genomes]
rs72911573	1.00[EUR][1000 genomes]
rs72913008	1.00[EUR][1000 genomes]
rs72913540	1.00[EUR][1000 genomes]
rs72913543	1.00[EUR][1000 genomes]
rs72913547	1.00[EUR][1000 genomes]
rs72913549	1.00[EUR][1000 genomes]
rs72913551	1.00[EUR][1000 genomes]
rs72915537	1.00[EUR][1000 genomes]
rs72915543	1.00[EUR][1000 genomes]
rs72915544	1.00[EUR][1000 genomes]
rs72915554	1.00[EUR][1000 genomes]
rs72915563	1.00[EUR][1000 genomes]
rs72915572	1.00[EUR][1000 genomes]
rs72915587	1.00[EUR][1000 genomes]
rs72915590	1.00[EUR][1000 genomes]
rs72918782	1.00[EUR][1000 genomes]
rs72918788	1.00[EUR][1000 genomes]
rs72920524	1.00[EUR][1000 genomes]
rs72920525	1.00[EUR][1000 genomes]
rs72920540	0.84[AFR][1000 genomes]
rs72920549	1.00[EUR][1000 genomes]
rs72920550	1.00[EUR][1000 genomes]
rs72920563	1.00[EUR][1000 genomes]
rs72920576	1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]
rs7580158	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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv961318	chr2:54818096-54823449	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
2	chr2:54804000-54822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:54808800-54822800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:54809400-54821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:54814000-54822800	Weak transcription	Ovary	ovary
9	chr2:54815400-54823400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:54816200-54830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:54816600-54822400	Weak transcription	Gastric	stomach
12	chr2:54816600-54822400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:54816600-54822600	Weak transcription	Colonic Mucosa	Colon
14	chr2:54816600-54828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:54816800-54820800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:54816800-54821200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:54816800-54822400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:54816800-54822600	Weak transcription	Placenta	Placenta
19	chr2:54816800-54823000	Weak transcription	Aorta	Aorta
20	chr2:54816800-54823200	Weak transcription	Fetal Kidney	kidney
21	chr2:54816800-54823400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:54817000-54822400	Weak transcription	NHLF	lung
23	chr2:54817000-54822600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:54817000-54822800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:54817000-54823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:54817000-54823200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:54817000-54825800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:54817000-54826200	Weak transcription	NHDF-Ad	bronchial
29	chr2:54817400-54822600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:54817400-54823000	Weak transcription	Dnd41	blood
31	chr2:54817400-54823200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:54817400-54823400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:54817400-54825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:54817600-54822400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:54817600-54822600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:54817600-54822800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:54817600-54823600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:54817600-54825000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:54817600-54825600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:54817800-54820800	Genic enhancers	HepG2	liver
41	chr2:54817800-54822200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:54817800-54822400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:54817800-54822600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:54817800-54822800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:54817800-54823000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:54817800-54823000	Weak transcription	NH-A	brain
47	chr2:54817800-54823400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:54817800-54825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:54817800-54826200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:54817800-54826200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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