Variant report

Variant	rs6755534
Chromosome Location	chr2:39615251-39615252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39613589..39616397-chr2:39663811..39666348,2	K562	blood:
2	chr2:39613441..39616248-chr2:39657678..39659490,2	MCF-7	breast:
3	chr2:39614635..39616169-chr2:39619014..39621210,2	MCF-7	breast:
4	chr2:39613765..39616642-chr2:39620557..39622902,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252239	Chromatin interaction
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10196447	1.00[ASN][1000 genomes]
rs10197632	0.87[ASN][1000 genomes]
rs10199948	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11677611	0.83[AFR][1000 genomes]
rs11888511	0.89[EUR][1000 genomes]
rs11898025	0.89[EUR][1000 genomes]
rs12712643	0.83[AFR][1000 genomes]
rs17023405	0.89[EUR][1000 genomes]
rs17023552	0.89[EUR][1000 genomes]
rs17023573	0.89[EUR][1000 genomes]
rs17023584	0.89[EUR][1000 genomes]
rs2373530	0.92[ASN][1000 genomes]
rs2708227	0.84[EUR][1000 genomes]
rs3770661	1.00[EUR][1000 genomes]
rs4670932	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs55797011	1.00[EUR][1000 genomes]
rs55961227	1.00[EUR][1000 genomes]
rs56024079	0.89[EUR][1000 genomes]
rs56361338	0.89[EUR][1000 genomes]
rs56928728	1.00[EUR][1000 genomes]
rs57271382	0.89[EUR][1000 genomes]
rs59121834	0.89[EUR][1000 genomes]
rs59707152	1.00[EUR][1000 genomes]
rs61219633	1.00[EUR][1000 genomes]
rs6718000	1.00[EUR][1000 genomes]
rs72921023	0.89[EUR][1000 genomes]
rs72927494	0.89[EUR][1000 genomes]
rs73923836	0.89[EUR][1000 genomes]
rs73923842	0.89[EUR][1000 genomes]
rs73923844	1.00[EUR][1000 genomes]
rs73923847	1.00[EUR][1000 genomes]
rs73923887	0.85[EUR][1000 genomes]
rs73923888	1.00[EUR][1000 genomes]
rs73923895	1.00[EUR][1000 genomes]
rs73924815	0.89[EUR][1000 genomes]
rs73924816	0.89[EUR][1000 genomes]
rs73924817	0.89[EUR][1000 genomes]
rs73930538	0.89[EUR][1000 genomes]
rs7588265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591563	1.00[EUR][1000 genomes]
rs7595047	1.00[EUR][1000 genomes]
rs7596222	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7599017	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
5	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
9	chr2:39607600-39619800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:39608000-39622800	Weak transcription	Fetal Kidney	kidney
12	chr2:39608400-39621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:39609000-39617400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:39609200-39617200	Weak transcription	NHDF-Ad	bronchial
16	chr2:39609200-39621600	Weak transcription	Lung	lung
17	chr2:39609400-39621200	Weak transcription	Brain Angular Gyrus	brain
18	chr2:39609400-39621200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:39609400-39621600	Weak transcription	HSMM	muscle
20	chr2:39609600-39617400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:39609600-39621200	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:39609600-39621400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:39609600-39621600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:39609600-39621600	Weak transcription	NH-A	brain
25	chr2:39609600-39621600	Weak transcription	Osteobl	bone
26	chr2:39609600-39626400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:39610000-39621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:39610200-39615600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:39610200-39621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:39610200-39626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:39610400-39617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:39610800-39615800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:39612000-39616000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:39613000-39621400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:39613200-39618200	Enhancers	Colon Smooth Muscle	Colon
36	chr2:39613400-39621200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:39613600-39616400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:39613600-39621600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:39613600-39621600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:39613800-39630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:39614000-39616000	Enhancers	Right Atrium	heart
42	chr2:39614000-39619800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:39614000-39628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:39614200-39615600	Weak transcription	Psoas Muscle	Psoas
45	chr2:39614400-39615600	Enhancers	Fetal Brain Female	brain
46	chr2:39614400-39615800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:39614600-39615600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr2:39614600-39616000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:39614600-39616000	Enhancers	Aorta	Aorta
50	chr2:39614600-39616000	Enhancers	Fetal Lung	lung

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