Variant report

Variant	rs199958721
Chromosome Location	chr2:9770343-9770344
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
2	chr2:9693170..9697860-chr2:9768724..9771765,11	MCF-7	breast:
3	chr2:9752399..9758466-chr2:9767981..9772630,10	MCF-7	breast:
4	chr17:57917133..57919241-chr2:9769843..9772304,3	MCF-7	breast:
5	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
6	chr2:9562344..9563897-chr2:9768299..9770984,2	K562	blood:
7	chr2:9769329..9772328-chr2:10259369..10262409,6	K562	blood:
8	chr2:9694267..9698929-chr2:9766642..9773016,9	K562	blood:
9	chr2:9767821..9771151-chr2:9909693..9912271,3	MCF-7	breast:
10	chr2:9695084..9698053-chr2:9768518..9772298,6	MCF-7	breast:
11	chr2:9758466..9761411-chr2:9769202..9771087,3	MCF-7	breast:
12	chr2:9769329..9772234-chr2:10259369..10263419,6	K562	blood:
13	chr2:9769809..9772321-chr7:1588274..1590769,2	MCF-7	breast:
14	chr2:9768532..9771052-chr2:10161123..10163614,2	MCF-7	breast:
15	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272524	Chromatin interaction
ENSG00000207086	Chromatin interaction
ENSG00000260476	Chromatin interaction
ENSG00000119185	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000164855	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000240687	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000119203	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000243491	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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3404576	chr2:9769526-9772474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9765800-9770400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:9766800-9770600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr2:9767000-9770400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:9767000-9770600	Transcr. at gene 5' and 3'	A549	lung
5	chr2:9767400-9770600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
6	chr2:9767800-9770600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:9767800-9771800	Active TSS	Pancreas	Pancrea
8	chr2:9768000-9771800	Active TSS	Right Ventricle	heart
9	chr2:9768200-9770400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:9768200-9770400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
11	chr2:9768400-9771400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:9768400-9771800	Active TSS	Aorta	Aorta
13	chr2:9768400-9771800	Active TSS	Left Ventricle	heart
14	chr2:9768400-9771800	Active TSS	Psoas Muscle	Psoas
15	chr2:9768400-9771800	Active TSS	Right Atrium	heart
16	chr2:9768600-9771600	Active TSS	HSMMtube	muscle
17	chr2:9768600-9771800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:9768600-9771800	Active TSS	Colonic Mucosa	Colon
19	chr2:9768600-9771800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:9768600-9771800	Active TSS	Ovary	ovary
21	chr2:9768800-9770400	Transcr. at gene 5' and 3'	K562	blood
22	chr2:9768800-9771600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:9768800-9771600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr2:9768800-9771600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:9768800-9771600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:9768800-9771600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:9768800-9771800	Active TSS	NHLF	lung
28	chr2:9769000-9770400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr2:9769000-9770400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr2:9769000-9771400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:9769000-9771400	Active TSS	GM12878-XiMat	blood
32	chr2:9769000-9771400	Active TSS	HSMM	muscle
33	chr2:9769000-9771400	Active TSS	NH-A	brain
34	chr2:9769000-9771600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr2:9769000-9771600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:9769000-9771600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:9769000-9771600	Active TSS	Brain Anterior Caudate	brain
38	chr2:9769000-9771600	Active TSS	Brain Cingulate Gyrus	brain
39	chr2:9769000-9771600	Active TSS	Brain Hippocampus Middle	brain
40	chr2:9769000-9771600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr2:9769000-9771600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:9769000-9771600	Active TSS	Brain Substantia Nigra	brain
43	chr2:9769000-9771600	Active TSS	Fetal Intestine Large	intestine
44	chr2:9769000-9771800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:9769000-9772000	Active TSS	Fetal Brain Female	brain
46	chr2:9769000-9772600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr2:9769200-9770400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr2:9769200-9770600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:9769200-9770600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:9769200-9771400	Active TSS	Hela-S3	cervix

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