Variant report

Variant	rs6748715
Chromosome Location	chr2:54866494-54866495
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54864735..54867892-chr2:54868332..54870818,3	K562	blood:
2	chr2:54859857..54861976-chr2:54864372..54866931,2	K562	blood:
3	chr2:54783722..54786543-chr2:54864491..54866571,2	K562	blood:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10166797	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10170283	0.85[CEU][hapmap]
rs10172671	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10188548	0.89[AFR][1000 genomes]
rs10191357	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10195423	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1047465	0.88[CHB][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs13401431	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13415949	0.88[AFR][1000 genomes]
rs13425620	1.00[YRI][hapmap]
rs13426037	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13427468	0.91[AFR][1000 genomes]
rs13428524	0.83[AFR][1000 genomes]
rs17046068	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660202	0.84[AFR][1000 genomes]
rs28710338	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2941581	0.93[ASN][1000 genomes]
rs2941592	0.86[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2971878	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs3769331	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3820856	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4426562	0.83[ASN][1000 genomes]
rs6740018	1.00[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs7340250	0.88[AFR][1000 genomes]
rs7583633	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7587575	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs9808516	1.00[YRI][hapmap];0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:54846600-54898000	Strong transcription	Dnd41	blood
9	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:54848000-54868800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:54848600-54892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:54857000-54869400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:54857000-54883400	Strong transcription	Hela-S3	cervix
14	chr2:54859400-54873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:54860400-54872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:54862200-54867800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:54862200-54896600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:54862400-54892800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:54862600-54866800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:54862600-54869800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:54862600-54892400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:54862600-54892400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:54862600-54893400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:54862600-54898400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:54863000-54866800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:54863000-54868200	Strong transcription	Fetal Intestine Large	intestine
28	chr2:54863000-54892000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:54863000-54892200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:54863000-54892400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:54863000-54895000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:54863000-54898600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood
34	chr2:54863200-54867800	Strong transcription	Brain Germinal Matrix	brain
35	chr2:54863200-54886200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:54863400-54867600	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr2:54863600-54867400	Genic enhancers	Fetal Stomach	stomach
38	chr2:54863600-54868000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:54863600-54868600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:54863600-54879400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr2:54863600-54897000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:54863800-54868200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:54863800-54897400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:54863800-54898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:54864000-54867000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:54864000-54867200	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr2:54864000-54868000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:54864200-54866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:54864200-54869000	Weak transcription	Aorta	Aorta
50	chr2:54864200-54871400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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