Variant report

Variant	rs2230471
Chromosome Location	chr1:172411496-172411497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr1:172411447-172411910	K562	blood:	n/a	n/a
2	EP300	chr1:172411438-172412428	K562	blood:	n/a	n/a
3	UBTF	chr1:172411412-172411979	K562	blood:	n/a	n/a
4	POLR2A	chr1:172411437-172412037	K562	blood:	n/a	n/a
5	ZMIZ1	chr1:172411409-172411893	K562	blood:	n/a	n/a
6	JUND	chr1:172411449-172411955	K562	blood:	n/a	n/a
7	MAX	chr1:172411470-172411916	K562	blood:	n/a	n/a
8	CCNT2	chr1:172411263-172411966	K562	blood:	n/a	n/a
9	TEAD4	chr1:172411333-172412133	K562	blood:	n/a	n/a
10	ELF1	chr1:172411421-172411858	K562	blood:	n/a	n/a
11	NR2F2	chr1:172411236-172412387	K562	blood:	n/a	chr1:172412004-172412019
12	IRF1	chr1:172411397-172412718	K562	blood:	n/a	chr1:172411974-172411988
13	STAT1	chr1:172411459-172412045	K562	blood:	n/a	n/a
14	ZBTB7A	chr1:172411313-172411888	K562	blood:	n/a	n/a
15	STAT5A	chr1:172411396-172412082	K562	blood:	n/a	n/a
16	GATA2	chr1:172411460-172411986	K562	blood:	n/a	n/a
17	RCOR1	chr1:172411492-172412333	K562	blood:	n/a	n/a
18	POLR2A	chr1:172411467-172411885	K562	blood:	n/a	n/a
19	ARID3A	chr1:172411312-172412501	K562	blood:	n/a	n/a
20	ZBTB7A	chr1:172411386-172411674	K562	blood:	n/a	n/a
21	CUX1	chr1:172410982-172411869	K562	blood:	n/a	n/a
22	NR2F2	chr1:172411390-172412138	K562	blood:	n/a	chr1:172412004-172412019
23	CBX3	chr1:172411425-172412396	K562	blood:	n/a	n/a
24	STAT1	chr1:172410931-172412061	K562	blood:	n/a	n/a
25	STAT5A	chr1:172411396-172412143	K562	blood:	n/a	n/a
26	TEAD4	chr1:172411439-172412005	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172410326..172414934-chr1:172499314..172504781,7	K562	blood:
2	chr1:172411064..172415256-chr1:172501216..172504781,6	K562	blood:
3	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
4	chr1:172396564..172399537-chr1:172408525..172411857,4	K562	blood:
5	chr1:172397474..172399263-chr1:172409397..172412332,2	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf105	TF binding region
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10752953	1.00[CEU][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2001131	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs2032531	0.93[EUR][1000 genomes]
rs2051628	0.94[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.93[EUR][1000 genomes]
rs2157451	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2213739	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2422139	1.00[CEU][hapmap];0.89[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2422142	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs4916185	0.83[MKK][hapmap]
rs4916255	0.85[MKK][hapmap]
rs4916256	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4916259	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs6659116	0.81[EUR][1000 genomes]
rs6660051	1.00[CEU][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6667786	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs6683444	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs6700880	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs916365	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs9425314	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9425610	0.85[EUR][1000 genomes]
rs9425618	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172373000-172411800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:172391000-172412200	Weak transcription	HSMMtube	muscle
3	chr1:172392000-172412200	Weak transcription	Right Ventricle	heart
4	chr1:172395600-172412200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:172396200-172412000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:172396600-172412400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:172396800-172411600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:172396800-172412200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:172399000-172411600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:172401200-172412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:172401400-172411800	Weak transcription	Fetal Intestine Small	intestine
12	chr1:172401400-172412000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:172401400-172412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:172401400-172412200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:172401400-172412800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:172401600-172411800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:172401600-172412000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:172401600-172412200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:172402000-172412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:172405400-172412200	Weak transcription	Fetal Intestine Large	intestine
21	chr1:172406400-172411800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:172407000-172411800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:172407200-172412200	Weak transcription	Fetal Brain Male	brain
24	chr1:172407400-172411800	Weak transcription	Fetal Lung	lung
25	chr1:172407800-172412000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:172408000-172412000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:172408400-172411600	Weak transcription	NHDF-Ad	bronchial
28	chr1:172408400-172411800	Weak transcription	NH-A	brain
29	chr1:172408600-172411800	Strong transcription	Fetal Thymus	thymus
30	chr1:172408800-172411800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:172409000-172411800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:172409200-172411600	Weak transcription	HUVEC	blood vessel
33	chr1:172409400-172412000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:172409400-172412200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr1:172409600-172411600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:172409600-172411600	Strong transcription	NHEK	skin
37	chr1:172409600-172412000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:172409600-172412000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:172409800-172412000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:172409800-172412600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:172410200-172411600	Genic enhancers	Primary T cells from cord blood	blood
42	chr1:172410200-172411800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:172410200-172411800	Strong transcription	Osteobl	bone
44	chr1:172410400-172411600	Weak transcription	Small Intestine	intestine
45	chr1:172410400-172411800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:172410400-172411800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr1:172410400-172411800	Weak transcription	Stomach Mucosa	stomach
48	chr1:172410400-172412200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:172410600-172411600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:172410600-172411800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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