Variant report

Variant	rs397870700
Chromosome Location	chr2:10276202-10276203
allele	-/C
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10274887..10276601-chr2:10582184..10584969,2	K562	blood:
2	chr2:10275826..10278054-chr2:10562875..10565231,2	K562	blood:
3	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
4	chr2:10271666..10276241-chr2:10279595..10283078,5	MCF-7	breast:
5	chr2:10274694..10277257-chr2:10316556..10318729,2	MCF-7	breast:
6	chr2:10219531..10221826-chr2:10274622..10276552,2	K562	blood:
7	chr2:10228690..10230970-chr2:10274890..10277638,2	K562	blood:
8	chr2:10212853..10217073-chr2:10274987..10278512,3	K562	blood:
9	chr2:10276192..10278788-chr2:10550662..10554322,4	K562	blood:
10	chr2:10275050..10276633-chr2:10298060..10300888,2	K562	blood:
11	chr2:10159180..10160819-chr2:10275177..10277719,2	K562	blood:
12	chr2:10241471..10243524-chr2:10274993..10276602,2	K562	blood:
13	chr2:10274850..10277272-chr2:10576045..10578779,2	MCF-7	breast:
14	chr2:10275519..10277436-chr2:10408432..10410415,2	K562	blood:
15	chr2:10273185..10278025-chr2:10572544..10579398,11	K562	blood:
16	chr2:10210334..10214416-chr2:10274346..10279304,5	K562	blood:
17	chr2:10262593..10265067-chr2:10276073..10279475,5	MCF-7	breast:
18	chr2:10274325..10277239-chr2:10417227..10419368,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205795	Chromatin interaction
ENSG00000163009	Chromatin interaction
ENSG00000212558	Chromatin interaction
ENSG00000171848	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	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
2	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
3	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:10265400-10280000	Weak transcription	Fetal Kidney	kidney
5	chr2:10265400-10284000	Weak transcription	Placenta	Placenta
6	chr2:10267400-10277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10269000-10277000	Weak transcription	HSMM	muscle
8	chr2:10269600-10299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:10269800-10285200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:10272200-10284000	Weak transcription	GM12878-XiMat	blood
12	chr2:10272400-10277200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:10272400-10277600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:10272600-10289800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:10273200-10277400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:10273400-10277400	Strong transcription	Fetal Thymus	thymus
17	chr2:10273400-10285000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:10273600-10276400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:10273600-10277200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:10273600-10282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:10273600-10283400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:10273800-10276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:10273800-10277200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:10273800-10277800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:10273800-10281600	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:10273800-10281800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:10273800-10282000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:10273800-10282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:10273800-10282600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:10273800-10283200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:10273800-10283400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:10273800-10283400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:10273800-10289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:10274000-10282000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:10274000-10299200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:10274600-10277800	Enhancers	Hela-S3	cervix
38	chr2:10274800-10277800	Genic enhancers	A549	lung
39	chr2:10275200-10276400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:10275200-10277400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:10275200-10277600	Strong transcription	Thymus	Thymus
42	chr2:10275200-10277600	Enhancers	K562	blood
43	chr2:10275200-10277800	Enhancers	HepG2	liver
44	chr2:10275200-10278200	Enhancers	HMEC	breast
45	chr2:10275200-10284200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:10275400-10281000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:10275400-10281400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:10275600-10276800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:10275600-10278200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:10275800-10276400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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