Variant report

Variant	rs140159885
Chromosome Location	chr2:10276758-10276759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:10271910-10278198	GM18526	blood:	n/a	n/a
2	POLR2A	chr2:10274456-10278058	HL-60	blood:	n/a	n/a
3	JUND	chr2:10275893-10277162	A549	lung:	n/a	chr2:10276032-10276043 chr2:10276958-10276969
4	POLR2A	chr2:10271854-10278247	GM18951	blood:	n/a	n/a
5	NFATC1	chr2:10275761-10277703	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:10276745-10276901	HepG2	liver:	n/a	n/a
7	FOXA2	chr2:10276377-10276793	A549	lung:	n/a	n/a
8	POLR2A	chr2:10271876-10278189	GM12891	blood:	n/a	n/a
9	SIN3AK20	chr2:10276435-10276859	PANC-1	pancreas:	n/a	n/a
10	CEBPB	chr2:10276194-10276763	HepG2	liver:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
11	POLR2A	chr2:10275118-10278120	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:10275325-10276764	MCF10A-Er-Src	breast:	n/a	n/a
13	NFIC	chr2:10276369-10276895	HepG2	liver:	n/a	n/a
14	PML	chr2:10275412-10276869	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:10276736-10278303	A549	lung:	n/a	n/a
16	POLR2A	chr2:10271753-10277952	K562	blood:	n/a	n/a
17	POLR2A	chr2:10274459-10280433	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:10275147-10278329	PFSK-1	brain:	n/a	n/a
19	NFATC1	chr2:10274330-10277987	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:10276010-10277689	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:10274394-10278191	PBDE	blood:	n/a	n/a
22	MBD4	chr2:10275739-10277009	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:10271779-10278326	K562	blood:	n/a	n/a
24	POLR2A	chr2:10274852-10278296	Raji	blood:	n/a	n/a
25	CEBPD	chr2:10275882-10276807	K562	blood:	n/a	n/a
26	POLR2A	chr2:10274235-10278109	HCT-116	colon:	n/a	n/a
27	POLR2A	chr2:10275058-10278120	U87	brain:	n/a	n/a
28	POLR2A	chr2:10275819-10277521	GM12891	blood:	n/a	n/a
29	RCOR1	chr2:10275922-10276787	K562	blood:	n/a	n/a
30	JUND	chr2:10275782-10276893	HCT-116	colon:	n/a	chr2:10276032-10276043
31	PBX3	chr2:10275782-10278252	SK-N-SH	brain:	n/a	n/a
32	POU2F2	chr2:10276670-10277014	GM12891	blood:	n/a	n/a
33	EP300	chr2:10276255-10276844	HepG2	liver:	n/a	chr2:10276322-10276336
34	POLR2A	chr2:10274569-10278151	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr2:10274308-10278153	Hela-S3	cervix:	n/a	n/a
36	BCL3	chr2:10275375-10278222	A549	lung:	n/a	chr2:10277846-10277855
37	POLR2A	chr2:10271023-10278228	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:10275820-10278190	HCT-116	colon:	n/a	n/a
39	POLR2A	chr2:10274675-10278120	U87	brain:	n/a	n/a
40	POLR2A	chr2:10274398-10278170	K562	blood:	n/a	n/a
41	TEAD4	chr2:10276059-10277405	HepG2	liver:	n/a	chr2:10276195-10276204
42	POLR2A	chr2:10276200-10276867	MCF-7	breast:	n/a	n/a
43	POLR2A	chr2:10271791-10278318	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr2:10275963-10277056	MCF-7	breast:	n/a	n/a
45	TEAD4	chr2:10276056-10276811	K562	blood:	n/a	chr2:10276195-10276204
46	POLR2A	chr2:10271895-10281381	U87	brain:	n/a	n/a
47	POLR2A	chr2:10275241-10278128	GM15510	blood:	n/a	n/a
48	POLR2A	chr2:10275776-10279510	K562	blood:	n/a	n/a
49	FOXA1	chr2:10276387-10276877	HepG2	liver:	n/a	n/a
50	POLR2A	chr2:10274311-10278215	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10275826..10278054-chr2:10562875..10565231,2	K562	blood:
2	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
3	chr2:10274694..10277257-chr2:10316556..10318729,2	MCF-7	breast:
4	chr2:10228690..10230970-chr2:10274890..10277638,2	K562	blood:
5	chr2:10212853..10217073-chr2:10274987..10278512,3	K562	blood:
6	chr2:10276382..10278828-chr2:10333001..10334634,2	MCF-7	breast:
7	chr2:10276192..10278788-chr2:10550662..10554322,4	K562	blood:
8	chr2:10159180..10160819-chr2:10275177..10277719,2	K562	blood:
9	chr2:10274850..10277272-chr2:10576045..10578779,2	MCF-7	breast:
10	chr2:10275519..10277436-chr2:10408432..10410415,2	K562	blood:
11	chr2:10273185..10278025-chr2:10572544..10579398,11	K562	blood:
12	chr2:10210334..10214416-chr2:10274346..10279304,5	K562	blood:
13	chr2:10262593..10265067-chr2:10276073..10279475,5	MCF-7	breast:
14	chr2:10274325..10277239-chr2:10417227..10419368,3	K562	blood:

No data

Variant related genes	Relation type
C2orf48	TF binding region
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:63 , 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	chr2:10273600-10277200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:10273600-10282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:10273600-10283400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:10273800-10277200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:10273800-10277800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:10273800-10281600	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:10273800-10281800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:10273800-10282000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:10273800-10282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10273800-10282600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:10273800-10283200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:10273800-10283400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:10273800-10283400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:10273800-10289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:10274000-10282000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:10274000-10299200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:10274600-10277800	Enhancers	Hela-S3	cervix
36	chr2:10274800-10277800	Genic enhancers	A549	lung
37	chr2:10275200-10277400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:10275200-10277600	Strong transcription	Thymus	Thymus
39	chr2:10275200-10277600	Enhancers	K562	blood
40	chr2:10275200-10277800	Enhancers	HepG2	liver
41	chr2:10275200-10278200	Enhancers	HMEC	breast
42	chr2:10275200-10284200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:10275400-10281000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:10275400-10281400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:10275600-10276800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:10275600-10278200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:10275800-10277400	Enhancers	NHEK	skin
48	chr2:10276000-10276800	ZNF genes & repeats	Fetal Stomach	stomach
49	chr2:10276000-10277000	Genic enhancers	Fetal Intestine Small	intestine
50	chr2:10276000-10277600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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