Variant report

Variant	rs111454910
Chromosome Location	chr2:152686352-152686353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr2:152686161-152686614	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152684763..152686807-chr2:153031833..153033553,2	MCF-7	breast:
2	chr2:152686002..152688866-chr2:152703453..152705205,2	MCF-7	breast:
3	chr2:152657917..152660487-chr2:152685208..152686908,2	K562	blood:
4	chr2:152685053..152687897-chr2:152732170..152734670,2	K562	blood:
5	chr2:152686310..152687943-chr2:152704557..152706509,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARL5A	TF binding region
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv3436133	chr2:152686106-152690504	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152685400-152686400	Weak transcription	Spleen	Spleen
2	chr2:152685400-152688200	Enhancers	Fetal Intestine Large	intestine
3	chr2:152685400-152697200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:152685600-152686600	Weak transcription	Small Intestine	intestine
5	chr2:152685600-152687200	Weak transcription	Aorta	Aorta
6	chr2:152685600-152687600	Enhancers	Fetal Intestine Small	intestine
7	chr2:152685600-152688600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:152685600-152694600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:152685600-152695200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:152685600-152697600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:152685600-152699400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:152685600-152709600	Weak transcription	Fetal Brain Female	brain
13	chr2:152685800-152686600	Enhancers	Adipose Nuclei	Adipose
14	chr2:152685800-152686600	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:152685800-152686600	Enhancers	K562	blood
16	chr2:152685800-152689800	Weak transcription	GM12878-XiMat	blood
17	chr2:152685800-152690000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:152685800-152690400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:152685800-152690400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:152685800-152690400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:152685800-152690400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:152685800-152690400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:152685800-152690400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:152685800-152692000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:152685800-152695200	Weak transcription	Brain Anterior Caudate	brain
26	chr2:152685800-152695600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:152685800-152697400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:152685800-152699200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:152685800-152699400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:152685800-152702200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:152686000-152688000	Enhancers	HepG2	liver

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