Variant report

Variant	rs3792623
Chromosome Location	chr4:48114027-48114028
allele	C/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	TCF12	chr4:48113627-48114637	SK-N-SH	brain:	n/a	n/a
2	EP300	chr4:48113969-48114645	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr4:48114000-48114150	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48107744..48110406-chr4:48112924..48114578,2	K562	blood:
2	chr4:48111744..48114510-chr4:48271581..48273231,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-868P	TF binding region
ENSG00000200269	Chromatin interaction
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1472865	1.00[CEU][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1532967	0.82[EUR][1000 genomes]
rs17574051	0.87[CEU][hapmap];0.81[YRI][hapmap]
rs2089507	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2262771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2661528	0.82[JPT][hapmap]
rs2704401	0.82[JPT][hapmap]
rs2940330	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3749504	0.82[EUR][1000 genomes]
rs4694884	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6822209	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs6833403	0.82[EUR][1000 genomes]
rs6850108	0.92[YRI][hapmap]
rs6854382	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:48106200-48114200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:48107400-48114400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:48109600-48114800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:48109800-48115000	Strong transcription	Primary T cells from cord blood	blood
7	chr4:48111400-48114200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:48111400-48114800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:48111600-48114600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:48111600-48114800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:48111800-48118600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:48112800-48114400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:48112800-48114600	Enhancers	HSMM	muscle
14	chr4:48113000-48114200	Enhancers	NH-A	brain
15	chr4:48113000-48115200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:48113200-48114200	Weak transcription	HSMMtube	muscle
17	chr4:48113200-48116800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:48113600-48114200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:48113600-48114200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:48113600-48114200	Enhancers	Osteobl	bone
21	chr4:48113600-48114400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:48113600-48121800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:48113800-48114200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:48113800-48114400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:48113800-48114600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:48114000-48114200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:48114000-48114200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:48114000-48114200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:48114000-48114400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:48114000-48114400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:48114000-48114400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
32	chr4:48114000-48114400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:48114000-48114400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:48114000-48114600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:48114000-48114600	Enhancers	NHEK	skin
36	chr4:48114000-48115800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:48114000-48116800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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