Variant report

Variant	rs556396020
Chromosome Location	chr2:234330214-234330215
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234327625..234329207-chr2:234329605..234332542,2	MCF-7	breast:
2	chr2:234164721..234166387-chr2:234329039..234331585,2	K562	blood:
3	chr2:234329436..234331641-chr2:234351887..234353732,2	MCF-7	breast:
4	chr2:234322925..234327112-chr2:234328162..234331354,4	K562	blood:
5	chr2:234329612..234332276-chr2:234340900..234342662,2	K562	blood:
6	chr2:234329179..234330776-chr2:234332983..234335044,2	K562	blood:
7	chr2:234329686..234332891-chr2:234335011..234337896,4	MCF-7	breast:
8	chr2:234330110..234332906-chr2:234472869..234475585,2	MCF-7	breast:
9	chr2:234322925..234325669-chr2:234328162..234330584,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	esv3459364	chr2:234329639-234330236	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234323800-234334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234324400-234335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:234325600-234330600	Weak transcription	HepG2	liver
7	chr2:234326400-234331200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:234326400-234331600	Enhancers	Fetal Thymus	thymus
9	chr2:234326600-234330600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr2:234326800-234330800	Enhancers	Ovary	ovary
11	chr2:234326800-234330800	Enhancers	Small Intestine	intestine
12	chr2:234326800-234331800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr2:234327000-234331000	Enhancers	Placenta	Placenta
14	chr2:234327200-234330800	Enhancers	Fetal Lung	lung
15	chr2:234327200-234331200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr2:234327400-234330600	Weak transcription	Pancreas	Pancrea
17	chr2:234327400-234331200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:234327400-234331400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:234327600-234331200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:234327600-234331800	Active TSS	Psoas Muscle	Psoas
21	chr2:234328200-234331000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:234328200-234331200	Enhancers	Lung	lung
23	chr2:234328200-234332200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:234328200-234333200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:234328200-234334200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:234328200-234335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:234328400-234331200	Enhancers	HSMMtube	muscle
28	chr2:234328400-234332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:234328600-234330400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:234328600-234330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:234328600-234330600	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:234328600-234330600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:234328600-234331800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:234328600-234332800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:234328800-234330600	Weak transcription	HSMM	muscle
36	chr2:234328800-234337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:234328800-234343000	Weak transcription	Liver	Liver
38	chr2:234329000-234330600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:234329000-234330800	Weak transcription	HMEC	breast
40	chr2:234329000-234331200	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:234329000-234332000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:234329000-234334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
45	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
46	chr2:234329200-234330400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:234329200-234330400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:234329200-234330600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:234329200-234330800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:234329200-234330800	Transcr. at gene 5' and 3'	A549	lung

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