Variant report

Variant	rs191886350
Chromosome Location	chr2:55348656-55348657
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	chr2:55347589..55350399-chr2:55353012..55356550,3	K562	blood:
2	chr2:55273963..55277742-chr2:55344682..55351127,9	K562	blood:
3	chr2:55348151..55351160-chr2:55366268..55368623,3	K562	blood:
4	chr2:55287127..55289595-chr2:55348601..55351225,2	K562	blood:
5	chr2:55339781..55342552-chr2:55346442..55349594,4	K562	blood:
6	chr2:55347566..55351333-chr2:55355556..55357913,4	K562	blood:
7	chr2:55274620..55276240-chr2:55348004..55351084,3	K562	blood:
8	chr2:55319141..55322072-chr2:55348443..55351423,2	K562	blood:
9	chr2:55347650..55349740-chr2:55350733..55352941,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522772	chr2:55347472-55349726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55342400-55350200	Enhancers	Fetal Heart	heart
4	chr2:55344400-55350200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:55344400-55350600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:55344600-55350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:55345200-55349000	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:55345400-55350200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:55345400-55350200	Enhancers	Brain Angular Gyrus	brain
10	chr2:55345600-55350200	Enhancers	Brain Germinal Matrix	brain
11	chr2:55345600-55350200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr2:55345600-55350400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:55345800-55348800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:55345800-55348800	Enhancers	NHDF-Ad	bronchial
15	chr2:55345800-55349000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:55346000-55351600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:55346200-55350000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:55346400-55349600	Weak transcription	HUVEC	blood vessel
19	chr2:55346600-55350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:55346800-55349200	Enhancers	Fetal Stomach	stomach
21	chr2:55346800-55350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:55347400-55351000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:55347400-55351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:55347400-55351000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:55347600-55349400	Weak transcription	Lung	lung
26	chr2:55347600-55349400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:55347600-55349600	Weak transcription	Left Ventricle	heart
28	chr2:55347600-55349600	Weak transcription	Pancreas	Pancrea
29	chr2:55347600-55349600	Weak transcription	Right Ventricle	heart
30	chr2:55347600-55350000	Enhancers	Fetal Muscle Leg	muscle
31	chr2:55347600-55360600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:55347800-55348800	Enhancers	HSMMtube	muscle
33	chr2:55347800-55350000	Enhancers	HSMM	muscle
34	chr2:55347800-55351000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:55348000-55349600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:55348000-55350400	Enhancers	Brain Anterior Caudate	brain
37	chr2:55348000-55351000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:55348000-55351000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:55348200-55348800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:55348200-55348800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:55348200-55348800	Enhancers	Stomach Smooth Muscle	stomach
42	chr2:55348200-55349000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:55348200-55349200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:55348200-55349600	Weak transcription	Primary B cells from cord blood	blood
45	chr2:55348200-55350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:55348200-55350000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:55348200-55351200	Weak transcription	Fetal Intestine Small	intestine
48	chr2:55348200-55360600	Weak transcription	Stomach Mucosa	stomach
49	chr2:55348400-55349400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:55348400-55349400	Weak transcription	Psoas Muscle	Psoas

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