Variant report

Variant	rs6748999
Chromosome Location	chr2:128226708-128226709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128221686..128223814-chr2:128225539..128227819,2	MCF-7	breast:
2	chr2:128223739..128227371-chr2:128227403..128230155,4	K562	blood:
3	chr2:128223739..128227156-chr2:128228484..128231083,5	K562	blood:

Variant related genes	Relation type
ENSG00000202429	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10190872	0.81[TSI][hapmap]
rs11896327	0.89[ASW][hapmap]
rs11902626	0.89[ASW][hapmap]
rs2069906	1.00[CEU][hapmap]
rs2078028	0.81[TSI][hapmap]
rs2176595	0.81[TSI][hapmap]
rs334139	0.92[TSI][hapmap]
rs334140	0.81[TSI][hapmap]
rs334149	0.81[TSI][hapmap]
rs334150	0.81[TSI][hapmap]
rs6716856	0.81[EUR][1000 genomes]
rs6731270	0.81[TSI][hapmap]
rs6734816	0.81[TSI][hapmap]
rs6745666	0.81[EUR][1000 genomes]
rs777559	0.81[TSI][hapmap]
rs777567	0.81[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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	esv3693423	chr2:128223875-128230794	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128206200-128237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:128206800-128233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:128208400-128238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:128209000-128238000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:128209200-128237600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:128210000-128227200	Weak transcription	Left Ventricle	heart
7	chr2:128210000-128237600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:128210200-128238000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:128211600-128226800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:128211600-128227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:128211600-128237600	Weak transcription	Right Ventricle	heart
12	chr2:128212200-128226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:128213000-128237600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:128213200-128237800	Weak transcription	Colonic Mucosa	Colon
15	chr2:128213400-128237800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:128213600-128237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:128213600-128237800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:128213800-128238000	Weak transcription	Brain Germinal Matrix	brain
19	chr2:128215400-128226800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:128216200-128233600	Weak transcription	GM12878-XiMat	blood
21	chr2:128219800-128237600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:128220400-128239800	Weak transcription	Fetal Lung	lung
23	chr2:128221600-128226800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:128221600-128227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:128221600-128229000	Weak transcription	HepG2	liver
26	chr2:128221600-128230200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:128221600-128237400	Weak transcription	HSMM	muscle
28	chr2:128221600-128237600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:128222200-128237800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:128222400-128237600	Weak transcription	Osteobl	bone
31	chr2:128222400-128237800	Weak transcription	Fetal Brain Female	brain
32	chr2:128222600-128226800	Weak transcription	Fetal Thymus	thymus
33	chr2:128222600-128237000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:128222600-128237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:128222800-128230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:128222800-128233400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:128222800-128237600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:128222800-128237800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:128222800-128239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:128223000-128227000	Weak transcription	NHEK	skin
41	chr2:128223000-128227400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:128223000-128237600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:128223200-128237000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:128223200-128237000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:128223200-128237600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:128223200-128237600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:128223200-128237800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:128223200-128237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:128223400-128227600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr2:128223400-128237000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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