Variant report

Variant	rs7588073
Chromosome Location	chr2:177716918-177716919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:177716667-177717221	SK-N-MC	brain:	n/a	n/a
2	MAFK	chr2:177716768-177716975	HepG2	liver:	n/a	chr2:177716894-177716905 chr2:177716894-177716905 chr2:177716894-177716910 chr2:177716895-177716906 chr2:177716804-177716820 chr2:177716893-177716907

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177709383..177714584-chr2:177715247..177719528,6	K562	blood:
2	chr2:177711466..177713806-chr2:177714846..177717263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227098	TF binding region
ENSG00000227098	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11900453	0.86[AFR][1000 genomes]
rs16864598	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv459953	chr2:177704321-177720675	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv583687	chr2:177704321-177720675	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv3050	chr2:177713430-177760533	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177712200-177717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:177712600-177717200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:177712600-177717200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:177715400-177717600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:177715600-177717600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:177715600-177718000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:177715800-177717600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:177715800-177722800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:177716000-177717400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:177716000-177717400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:177716000-177717800	Enhancers	Brain Germinal Matrix	brain
12	chr2:177716200-177717400	Enhancers	Fetal Brain Male	brain
13	chr2:177716200-177717600	Enhancers	Fetal Brain Female	brain
14	chr2:177716200-177718000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:177716200-177722400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:177716400-177719000	Enhancers	Primary T cells from cord blood	blood
17	chr2:177716600-177717000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:177716600-177717800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:177716600-177717800	Enhancers	Fetal Thymus	thymus
20	chr2:177716600-177718000	Enhancers	Thymus	Thymus
21	chr2:177716600-177722200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:177716600-177722600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:177716600-177722600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:177716600-177722800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:177716800-177718000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:177716800-177718000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:177716800-177718200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:177716800-177721400	Weak transcription	Fetal Kidney	kidney

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