Variant report

Variant	rs4653737
Chromosome Location	chr1:226613399-226613400
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226611970..226613533-chr1:226620881..226623391,2	K562	blood:
2	chr1:226607208..226608718-chr1:226613102..226615218,2	K562	blood:
3	chr1:226607208..226609606-chr1:226610785..226615218,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10753424	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10799350	0.82[EUR][1000 genomes]
rs10915994	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1527363	0.92[ASN][1000 genomes]
rs1527365	0.92[ASN][1000 genomes]
rs1946626	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2039925	0.92[ASN][1000 genomes]
rs4653448	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653449	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6698490	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7534366	0.86[JPT][hapmap]
rs7550686	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7554919	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs907188	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226596200-226622600	Weak transcription	Right Atrium	heart
2	chr1:226602800-226616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226606000-226616200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:226606200-226616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226607400-226614200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:226608400-226616200	Weak transcription	Fetal Brain Female	brain
7	chr1:226612000-226616000	Enhancers	Dnd41	blood
8	chr1:226612400-226613400	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:226612400-226614200	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:226612400-226616200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:226612400-226616400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:226612600-226616000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:226612600-226616400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:226612600-226616800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:226612800-226613400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr1:226612800-226613600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:226612800-226613800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:226612800-226613800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:226612800-226613800	Flanking Active TSS	GM12878-XiMat	blood
20	chr1:226612800-226616000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:226612800-226616200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:226612800-226616200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:226612800-226616200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:226612800-226616600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:226612800-226616800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:226612800-226617000	Weak transcription	Fetal Kidney	kidney
27	chr1:226612800-226617800	Weak transcription	Ovary	ovary
28	chr1:226612800-226624600	Weak transcription	Fetal Brain Male	brain
29	chr1:226613000-226613400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:226613000-226613400	Weak transcription	Placenta	Placenta
31	chr1:226613000-226613600	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr1:226613000-226613600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr1:226613000-226613800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr1:226613000-226613800	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:226613000-226613800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:226613000-226617600	Enhancers	Fetal Thymus	thymus
37	chr1:226613200-226613400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:226613200-226613400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:226613200-226613400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr1:226613200-226613400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:226613200-226613400	Enhancers	Colonic Mucosa	Colon
42	chr1:226613200-226613400	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr1:226613200-226613400	Active TSS	Duodenum Mucosa	Duodenum
44	chr1:226613200-226613400	Flanking Active TSS	Thymus	Thymus
45	chr1:226613200-226613400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr1:226613200-226613600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr1:226613200-226613600	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr1:226613200-226613600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr1:226613200-226613600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:226613200-226613600	Active TSS	Primary T helper cells PMA-I stimulated	--

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