Variant report

Variant	rs6721972
Chromosome Location	chr2:55631013-55631014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55624788..55628704-chr2:55629085..55632054,3	K562	blood:
2	chr2:55629328..55632200-chr2:55634808..55637417,2	K562	blood:
3	chr2:55629189..55632200-chr2:55632234..55637417,4	K562	blood:
4	chr2:55627338..55628874-chr2:55629453..55631312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115355	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34721785	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7600669	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv874159	chr2:55513738-55636351	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv275364	chr2:55621732-55632233	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55542400-55644800	Weak transcription	Primary T cells from cord blood	blood
2	chr2:55555200-55635800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:55579200-55640800	Weak transcription	Fetal Brain Male	brain
4	chr2:55579400-55644400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:55579600-55632200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:55582000-55632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:55589400-55639400	Weak transcription	Aorta	Aorta
8	chr2:55589600-55632200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:55591000-55646000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:55592000-55635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:55592200-55631800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:55592800-55635600	Weak transcription	HSMMtube	muscle
13	chr2:55593200-55632600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:55593800-55631800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:55600600-55631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:55601800-55644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:55612800-55632000	Weak transcription	Fetal Stomach	stomach
18	chr2:55614200-55632000	Weak transcription	Thymus	Thymus
19	chr2:55616600-55635400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:55616600-55635400	Weak transcription	HMEC	breast
21	chr2:55616800-55632200	Weak transcription	Hela-S3	cervix
22	chr2:55616800-55642600	Weak transcription	HUVEC	blood vessel
23	chr2:55618200-55635200	Weak transcription	Psoas Muscle	Psoas
24	chr2:55618200-55639400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:55618200-55642400	Weak transcription	Fetal Lung	lung
26	chr2:55618600-55636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:55619000-55632200	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:55619200-55636800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:55619600-55632000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:55623000-55635600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:55623200-55644400	Weak transcription	Fetal Kidney	kidney
32	chr2:55623600-55632200	Weak transcription	GM12878-XiMat	blood
33	chr2:55624200-55635600	Weak transcription	NHEK	skin
34	chr2:55624400-55645600	Weak transcription	Ovary	ovary
35	chr2:55624600-55632600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:55627000-55631400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:55627800-55636000	Weak transcription	NHDF-Ad	bronchial
38	chr2:55628000-55632200	Weak transcription	NHLF	lung
39	chr2:55628200-55633000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:55628400-55632200	Weak transcription	Left Ventricle	heart
41	chr2:55628600-55632600	Weak transcription	Fetal Intestine Small	intestine
42	chr2:55628600-55646000	Weak transcription	Esophagus	oesophagus
43	chr2:55629000-55631600	Weak transcription	HepG2	liver
44	chr2:55629000-55634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:55629000-55635600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:55629200-55632200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:55629400-55631200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:55629400-55631200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:55629400-55632000	Weak transcription	Liver	Liver
50	chr2:55629400-55633000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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