Variant report

Variant	rs6748363
Chromosome Location	chr2:48082191-48082192
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48079577..48082466-chr2:48083216..48086819,3	K562	blood:
2	chr2:48079893..48082466-chr2:48082894..48085745,2	K562	blood:
3	chr2:48071439..48074255-chr2:48079840..48082748,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3136273	1.00[AFR][1000 genomes]
rs3136284	1.00[YRI][hapmap]
rs3136323	1.00[AFR][1000 genomes]
rs3136325	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs3136327	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs3136328	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6734214	1.00[AFR][1000 genomes]
rs7557108	1.00[YRI][hapmap]
rs7570945	1.00[AFR][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	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48043400-48088600	Weak transcription	Pancreas	Pancrea
2	chr2:48049200-48096000	Weak transcription	Gastric	stomach
3	chr2:48060200-48093000	Weak transcription	Psoas Muscle	Psoas
4	chr2:48061400-48093800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:48063800-48083600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:48064000-48095200	Weak transcription	Spleen	Spleen
7	chr2:48064400-48084800	Weak transcription	NHEK	skin
8	chr2:48065200-48086600	Weak transcription	Fetal Brain Female	brain
9	chr2:48065400-48098200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:48066000-48085200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:48066000-48097400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:48066000-48100400	Weak transcription	Thymus	Thymus
14	chr2:48066200-48084000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:48066200-48085400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:48066200-48094600	Weak transcription	Fetal Kidney	kidney
17	chr2:48066400-48083200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:48066400-48085400	Weak transcription	Osteobl	bone
19	chr2:48066400-48088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:48066400-48092200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:48066400-48097600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:48066800-48083400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:48066800-48083600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:48066800-48084200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:48066800-48088400	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:48066800-48094200	Weak transcription	HSMM	muscle
27	chr2:48066800-48094400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:48067000-48082400	Weak transcription	NH-A	brain
29	chr2:48067000-48082600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:48067000-48083200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:48067000-48084600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:48067000-48091800	Weak transcription	HUVEC	blood vessel
33	chr2:48067000-48094200	Weak transcription	HMEC	breast
34	chr2:48067000-48094800	Weak transcription	K562	blood
35	chr2:48067000-48095800	Weak transcription	Fetal Thymus	thymus
36	chr2:48067000-48122000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:48067600-48097600	Weak transcription	Dnd41	blood
38	chr2:48067800-48094400	Weak transcription	Right Atrium	heart
39	chr2:48068000-48083000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:48070200-48084800	Weak transcription	Small Intestine	intestine
41	chr2:48070400-48091800	Weak transcription	Brain Substantia Nigra	brain
42	chr2:48070800-48083200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:48071600-48083200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:48072200-48093000	Weak transcription	Lung	lung
45	chr2:48073000-48095200	Weak transcription	Right Ventricle	heart
46	chr2:48073000-48096000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:48073400-48083200	Weak transcription	Primary B cells from cord blood	blood
48	chr2:48073600-48082400	Weak transcription	Left Ventricle	heart
49	chr2:48073600-48082800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:48073600-48100000	Weak transcription	Fetal Muscle Trunk	muscle

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