Variant report

Variant	rs372427573
Chromosome Location	chr2:55495033-55495034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55458256..55462359-chr2:55494864..55497801,3	K562	blood:
2	chr2:55457538..55465596-chr2:55493335..55497971,13	MCF-7	breast:
3	chr2:55274992..55277411-chr2:55494676..55497816,3	K562	blood:
4	chr2:55494928..55498059-chr2:55506695..55512310,8	K562	blood:
5	chr2:55491409..55498987-chr2:55507178..55511380,11	MCF-7	breast:
6	chr2:55458256..55461079-chr2:55494634..55496499,3	K562	blood:
7	chr2:55475194..55477770-chr2:55494963..55497132,2	MCF-7	breast:
8	chr2:55458156..55461118-chr2:55494163..55499368,6	MCF-7	breast:
9	chr12:120728776..120730953-chr2:55493561..55496361,2	MCF-7	breast:
10	chr2:55494631..55497013-chr2:55842868..55845390,2	MCF-7	breast:
11	chr2:55493189..55494879-chr2:55494974..55496543,2	MCF-7	breast:
12	chr2:55274992..55276773-chr2:55494676..55496447,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143947	Chromatin interaction
ENSG00000272606	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000162997	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000162994	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	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
4	esv3502708	chr2:55481350-55506212	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3502709	chr2:55481350-55506212	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv525025	chr2:55483020-55505456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv1799450	chr2:55494904-55520842	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
3	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:55472000-55495200	Weak transcription	Psoas Muscle	Psoas
7	chr2:55476000-55495400	Weak transcription	HUVEC	blood vessel
8	chr2:55476600-55495400	Weak transcription	Aorta	Aorta
9	chr2:55476600-55495400	Weak transcription	Fetal Heart	heart
10	chr2:55476600-55495600	Weak transcription	Esophagus	oesophagus
11	chr2:55476800-55495400	Weak transcription	Fetal Kidney	kidney
12	chr2:55480000-55495400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:55480400-55495600	Weak transcription	Brain Substantia Nigra	brain
14	chr2:55481400-55495400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:55481400-55495400	Weak transcription	Fetal Lung	lung
16	chr2:55481600-55495400	Weak transcription	NHDF-Ad	bronchial
17	chr2:55487200-55495400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:55488000-55495400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:55489600-55495400	Weak transcription	NH-A	brain
20	chr2:55490600-55495600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:55491000-55495400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:55491000-55495400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:55491000-55495400	Weak transcription	Brain Germinal Matrix	brain
24	chr2:55491000-55495400	Weak transcription	Right Ventricle	heart
25	chr2:55491400-55495600	Weak transcription	Ovary	ovary
26	chr2:55491600-55495400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:55491600-55495400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:55491600-55495400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:55491600-55495400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:55491600-55495400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:55491600-55495400	Weak transcription	Brain Angular Gyrus	brain
32	chr2:55491600-55495400	Weak transcription	HMEC	breast
33	chr2:55491600-55495400	Weak transcription	HSMM	muscle
34	chr2:55491600-55495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:55491600-55495600	Weak transcription	Small Intestine	intestine
36	chr2:55491800-55495400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:55491800-55495400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:55491800-55495400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:55491800-55495400	Weak transcription	Colonic Mucosa	Colon
40	chr2:55491800-55495400	Weak transcription	Fetal Brain Female	brain
41	chr2:55491800-55495400	Weak transcription	Fetal Thymus	thymus
42	chr2:55491800-55495400	Weak transcription	HSMMtube	muscle
43	chr2:55491800-55495600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:55491800-55495600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:55491800-55495600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:55491800-55495600	Weak transcription	Thymus	Thymus
47	chr2:55492000-55495400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:55492000-55495400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:55492000-55495400	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:55492000-55495600	Weak transcription	Primary B cells from cord blood	blood

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