Variant report

Variant	rs6748456
Chromosome Location	chr2:30835496-30835497
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30669895..30671800-chr2:30834576..30837121,2	K562	blood:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2363985	0.83[AMR][1000 genomes]
rs57847208	1.00[EUR][1000 genomes]
rs60449073	1.00[EUR][1000 genomes]
rs6739240	1.00[EUR][1000 genomes]
rs72853177	1.00[EUR][1000 genomes]
rs72853183	1.00[EUR][1000 genomes]
rs72856612	1.00[EUR][1000 genomes]
rs72856616	1.00[EUR][1000 genomes]
rs72856621	1.00[EUR][1000 genomes]
rs72856644	1.00[EUR][1000 genomes]
rs72856659	1.00[EUR][1000 genomes]
rs72856689	1.00[EUR][1000 genomes]
rs72859002	1.00[EUR][1000 genomes]
rs72863023	1.00[EUR][1000 genomes]
rs72863101	1.00[EUR][1000 genomes]
rs72865406	1.00[EUR][1000 genomes]
rs7582446	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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	esv1826356	chr2:30809843-30841108	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1003432	chr2:30814986-30849343	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762445	chr2:30814998-30849343	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:30811600-30863000	Weak transcription	Ovary	ovary
7	chr2:30825800-30844200	Weak transcription	Fetal Thymus	thymus
8	chr2:30826400-30835600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:30828400-30836200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:30828800-30835800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:30828800-30837600	Weak transcription	Primary T cells from cord blood	blood
12	chr2:30831000-30844800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:30831600-30844800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:30831600-30852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:30832000-30835600	Weak transcription	A549	lung
17	chr2:30832000-30848600	Weak transcription	K562	blood
18	chr2:30832800-30844200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:30833800-30836600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:30834200-30835600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:30834200-30835600	Enhancers	HSMMtube	muscle
22	chr2:30834200-30835800	Enhancers	NHDF-Ad	bronchial
23	chr2:30834200-30836000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:30834200-30836200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:30834200-30836200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:30834200-30836200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:30834200-30836200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:30834200-30836200	Enhancers	Left Ventricle	heart
29	chr2:30834200-30836600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:30834200-30836600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:30834400-30835600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:30834400-30835600	Enhancers	Fetal Lung	lung
33	chr2:30834400-30835800	Enhancers	Primary B cells from peripheral blood	blood
34	chr2:30834400-30836000	Enhancers	Fetal Muscle Leg	muscle
35	chr2:30834400-30836200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:30834400-30836400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:30834400-30836600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:30834400-30836600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:30834600-30835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:30834600-30835800	Enhancers	Fetal Kidney	kidney
41	chr2:30834600-30836200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:30834600-30844600	Weak transcription	Right Ventricle	heart
43	chr2:30834600-30844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
45	chr2:30834800-30835600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:30834800-30835600	Flanking Active TSS	Fetal Heart	heart
47	chr2:30834800-30835800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr2:30834800-30836000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr2:30834800-30836600	Enhancers	HepG2	liver
50	chr2:30834800-30844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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