Variant report

Variant	rs57668619
Chromosome Location	chr2:100187162-100187163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100186013..100188889-chr2:100195878..100198407,2	MCF-7	breast:
2	chr2:100174951..100177621-chr2:100186656..100189501,2	MCF-7	breast:
3	chr2:100179261..100182379-chr2:100186493..100190698,4	MCF-7	breast:
4	chr2:100185857..100187618-chr2:100189225..100191033,2	K562	blood:
5	chr2:100187159..100190899-chr2:100196403..100199572,4	K562	blood:
6	chr2:100187159..100189403-chr2:100196536..100199127,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17022741	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17022788	1.00[EUR][1000 genomes]
rs2167339	0.83[EUR][1000 genomes]
rs3087387	0.83[AMR][1000 genomes]
rs56684522	0.83[EUR][1000 genomes]
rs57093686	0.83[AMR][1000 genomes]
rs57599963	0.83[EUR][1000 genomes]
rs57969550	0.83[EUR][1000 genomes]
rs58226642	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58780429	0.83[EUR][1000 genomes]
rs59311105	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59753430	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59859749	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60633946	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6707685	0.83[AMR][1000 genomes]
rs6723062	0.83[AMR][1000 genomes]
rs6745673	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6761053	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6761507	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73964150	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73964152	0.83[AMR][1000 genomes]
rs73964155	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73964157	0.83[EUR][1000 genomes]
rs73964158	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73964166	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7568990	0.83[AMR][1000 genomes]
rs7570405	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7571186	0.83[AMR][1000 genomes]
rs7595242	0.83[AMR][1000 genomes];0.83[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100158600-100189200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:100161200-100190200	Weak transcription	Right Atrium	heart
3	chr2:100161800-100187800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100161800-100211200	Weak transcription	Fetal Kidney	kidney
5	chr2:100162600-100193400	Weak transcription	Liver	Liver
6	chr2:100162800-100219200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:100163200-100203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:100164000-100204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:100165200-100190000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:100167600-100202000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:100168000-100187800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:100168000-100188000	Weak transcription	NH-A	brain
13	chr2:100169200-100193200	Weak transcription	Fetal Thymus	thymus
14	chr2:100171000-100194000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:100171200-100202600	Weak transcription	Gastric	stomach
16	chr2:100171400-100187200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:100171400-100203800	Weak transcription	Aorta	Aorta
18	chr2:100171400-100203800	Weak transcription	Spleen	Spleen
19	chr2:100172600-100209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:100173200-100194800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:100173400-100202600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:100177400-100204000	Weak transcription	Fetal Heart	heart
23	chr2:100180800-100188200	Strong transcription	Primary T cells from cord blood	blood
24	chr2:100182000-100188200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:100182000-100188200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:100182000-100193800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:100182200-100187600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:100182200-100189000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:100182400-100187800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:100182400-100189200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:100182800-100187200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:100182800-100189200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:100182800-100190000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:100183600-100190800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:100183600-100195200	Strong transcription	Primary B cells from cord blood	blood
36	chr2:100183800-100187200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:100183800-100187800	Strong transcription	Fetal Lung	lung
38	chr2:100183800-100189400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:100184200-100196800	Weak transcription	Lung	lung
40	chr2:100184200-100206600	Weak transcription	Esophagus	oesophagus
41	chr2:100184400-100189200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:100184400-100211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:100184600-100193200	Weak transcription	Thymus	Thymus
44	chr2:100184600-100193400	Weak transcription	Dnd41	blood
45	chr2:100184800-100188800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:100184800-100193200	Weak transcription	Adipose Nuclei	Adipose
47	chr2:100185200-100187200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:100185200-100187400	Strong transcription	Ovary	ovary
49	chr2:100186000-100191600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:100186400-100191400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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