Variant report

Variant	rs2348727
Chromosome Location	chr1:165637442-165637443
allele	C/T
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	IRF1	chr1:165637357-165637469	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165636460..165640030-chr1:165641604..165644830,4	K562	blood:
2	chr1:165637022..165639402-chr1:165664990..165667855,2	K562	blood:

Variant related genes	Relation type
ENSG00000230175	TF binding region
ALDH9A1	TF binding region
ENSG00000143149	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10157944	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10494446	0.83[CHB][hapmap]
rs10494447	0.83[CHB][hapmap]
rs10800123	0.83[CHB][hapmap]
rs10800124	0.81[ASN][1000 genomes]
rs10800125	1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs10800126	0.93[JPT][hapmap]
rs10918229	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs10918231	0.82[JPT][hapmap]
rs10918232	0.81[ASN][1000 genomes]
rs10918235	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs10918239	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs10918240	0.81[ASN][1000 genomes]
rs12065621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069198	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12072628	0.84[ASN][1000 genomes]
rs12072634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12072664	0.81[ASN][1000 genomes]
rs12080699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12083091	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12083232	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12084651	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12122497	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12123278	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs1538113	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17417191	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450889	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878074	0.83[CHB][hapmap]
rs1878075	0.83[CHB][hapmap]
rs2050619	0.83[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs2176151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184918	0.81[ASN][1000 genomes]
rs2297762	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs2297763	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2348728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2348729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795540	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs3820362	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4147604	0.83[CHB][hapmap]
rs4147605	0.83[CHB][hapmap]
rs4147606	0.83[CHB][hapmap]
rs4147610	0.91[CHB][hapmap]
rs4147611	0.83[CHB][hapmap]
rs4646895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646896	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646897	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56279704	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61800398	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61800420	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61800421	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6657651	0.84[ASN][1000 genomes]
rs6662419	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6667075	0.81[ASN][1000 genomes]
rs6669697	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6683651	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6683665	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6683969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7525102	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7534437	0.96[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8133	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs884121	0.94[ASN][1000 genomes]
rs9333483	0.83[CHB][hapmap]

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165606200-165659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165618000-165638600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:165618200-165652400	Strong transcription	Fetal Muscle Leg	muscle
4	chr1:165618800-165638600	Strong transcription	Fetal Intestine Large	intestine
5	chr1:165619000-165642600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:165619000-165643600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:165619200-165648800	Strong transcription	Liver	Liver
8	chr1:165619600-165642600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:165619600-165653200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:165623400-165653000	Weak transcription	Stomach Mucosa	stomach
11	chr1:165628000-165646600	Strong transcription	Primary T cells from cord blood	blood
12	chr1:165628800-165639000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:165628800-165639000	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr1:165628800-165640200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:165628800-165642000	Strong transcription	HSMM	muscle
16	chr1:165628800-165642200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:165628800-165644000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:165628800-165646800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:165628800-165646800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:165629000-165638600	Strong transcription	Brain Substantia Nigra	brain
21	chr1:165629000-165639400	Strong transcription	Placenta	Placenta
22	chr1:165629000-165653600	Strong transcription	Dnd41	blood
23	chr1:165629200-165638600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:165629200-165638800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:165629200-165641600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:165629200-165642800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr1:165629200-165643600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:165629400-165642200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:165629400-165642600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:165629400-165652800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:165629400-165654200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:165629400-165656000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:165629600-165638200	Strong transcription	Esophagus	oesophagus
34	chr1:165629600-165638600	Strong transcription	Fetal Brain Female	brain
35	chr1:165629600-165641800	Strong transcription	Fetal Lung	lung
36	chr1:165629600-165643000	Strong transcription	Primary B cells from cord blood	blood
37	chr1:165629600-165654800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:165629800-165638600	Strong transcription	Brain Anterior Caudate	brain
39	chr1:165629800-165638800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:165629800-165642000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:165629800-165643600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:165629800-165654800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:165630000-165638600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:165630000-165638600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:165630000-165639000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:165630000-165642200	Strong transcription	Fetal Thymus	thymus
47	chr1:165630000-165642200	Strong transcription	Thymus	Thymus
48	chr1:165630000-165654400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:165630200-165638600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:165630400-165639000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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