Variant report

Variant	rs6721042
Chromosome Location	chr2:74217283-74217284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74215681..74218530-chr2:74336371..74337878,2	MCF-7	breast:
2	chr2:74164943..74166674-chr2:74216384..74217896,2	K562	blood:
3	chr2:74146977..74148538-chr2:74216014..74218823,2	K562	blood:
4	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114956	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13027050	0.80[EUR][1000 genomes]
rs13387174	1.00[EUR][1000 genomes]
rs13390332	1.00[EUR][1000 genomes]
rs17009553	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34425704	0.80[EUR][1000 genomes]
rs34493480	0.80[EUR][1000 genomes]
rs6745776	0.80[EUR][1000 genomes]
rs71418714	0.86[AMR][1000 genomes];0.89[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	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74213200-74218000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr2:74213400-74220400	Weak transcription	HSMMtube	muscle
3	chr2:74215200-74217400	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr2:74215200-74217400	Enhancers	Right Ventricle	heart
5	chr2:74215200-74217800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:74215400-74220200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:74215400-74220200	Weak transcription	NHLF	lung
8	chr2:74215600-74217400	Genic enhancers	Primary hematopoietic stem cells	blood
9	chr2:74215600-74217600	Genic enhancers	Esophagus	oesophagus
10	chr2:74215600-74218200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:74215600-74224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:74215800-74217400	Weak transcription	Psoas Muscle	Psoas
13	chr2:74215800-74217800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:74215800-74218000	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:74215800-74218000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:74215800-74218200	Strong transcription	A549	lung
17	chr2:74215800-74220000	Weak transcription	HSMM	muscle
18	chr2:74215800-74220200	Weak transcription	HUVEC	blood vessel
19	chr2:74215800-74220600	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:74215800-74224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:74215800-74225000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:74215800-74225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:74215800-74225600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:74215800-74226800	Weak transcription	Colonic Mucosa	Colon
25	chr2:74215800-74226800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:74215800-74226800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:74215800-74227000	Weak transcription	Right Atrium	heart
28	chr2:74215800-74227400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:74215800-74229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:74216000-74217800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:74216000-74218000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:74216000-74218000	Genic enhancers	HepG2	liver
33	chr2:74216000-74218200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr2:74216000-74219400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:74216000-74220000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:74216000-74225400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:74216000-74227000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:74216000-74227000	Weak transcription	Small Intestine	intestine
39	chr2:74216400-74218200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:74216400-74218400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:74216400-74218600	Strong transcription	NHEK	skin
42	chr2:74216400-74219000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:74216400-74220200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:74216400-74220200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:74216400-74220200	Weak transcription	Placenta	Placenta
46	chr2:74216400-74222800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:74216400-74226600	Weak transcription	Fetal Heart	heart
48	chr2:74216400-74229200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:74216600-74217600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:74216600-74217600	Strong transcription	Rectal Mucosa Donor 31	rectum

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