Variant report

Variant	rs2157451
Chromosome Location	chr1:172417781-172417782
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	CTCF	chr1:172417456-172420817	A549	lung:	n/a	chr1:172419229-172419247 chr1:172420251-172420259 chr1:172419777-172419790 chr1:172419234-172419242 chr1:172419231-172419252

No.	Distal block	Cell Line	Cell type
1	chr1:172406592..172408826-chr1:172417525..172419582,2	K562	blood:
2	chr1:172416555..172419141-chr1:172466431..172468171,3	MCF-7	breast:
3	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
4	chr1:172417311..172418961-chr1:172442502..172444312,2	MCF-7	breast:
5	chr1:172416738..172419262-chr1:172481149..172482659,2	MCF-7	breast:
6	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
7	chr1:172417113..172418877-chr1:172464746..172466370,2	MCF-7	breast:
8	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
9	chr1:172398735..172400364-chr1:172416893..172418563,2	MCF-7	breast:

Variant related genes	Relation type
PIGC	TF binding region
C1orf105	TF binding region
ENSG00000180999	Chromatin interaction
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10489292	1.00[YRI][hapmap]
rs10752953	1.00[CEU][hapmap]
rs12075079	1.00[YRI][hapmap]
rs2001131	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2032531	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2051628	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs2213739	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2230471	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2422139	1.00[CEU][hapmap]
rs2422142	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs4916256	1.00[CEU][hapmap]
rs4916259	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6659116	0.81[EUR][1000 genomes]
rs6660051	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6667786	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6678749	1.00[YRI][hapmap]
rs6683444	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6700880	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs916365	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs9425314	1.00[CEU][hapmap]
rs9425610	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9425618	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172413600-172417800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:172413600-172417800	Weak transcription	Placenta	Placenta
3	chr1:172413600-172418000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:172413600-172418000	Weak transcription	HSMMtube	muscle
5	chr1:172413600-172418000	Weak transcription	NH-A	brain
6	chr1:172413600-172418400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:172413600-172418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:172413600-172418600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:172413600-172418600	Weak transcription	Esophagus	oesophagus
10	chr1:172413600-172418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:172413600-172418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:172413600-172418800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:172413600-172418800	Weak transcription	Lung	lung
14	chr1:172413600-172418800	Weak transcription	Small Intestine	intestine
15	chr1:172413600-172419000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:172413600-172419000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:172413600-172419000	Weak transcription	Fetal Thymus	thymus
18	chr1:172413600-172419000	Weak transcription	Right Ventricle	heart
19	chr1:172413600-172419200	Weak transcription	Fetal Heart	heart
20	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:172413800-172417800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:172413800-172417800	Weak transcription	Fetal Kidney	kidney
24	chr1:172413800-172418200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:172413800-172418200	Weak transcription	K562	blood
26	chr1:172413800-172418800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:172413800-172418800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:172413800-172418800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:172413800-172418800	Weak transcription	GM12878-XiMat	blood
30	chr1:172413800-172419000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:172413800-172419000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:172413800-172419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:172413800-172419000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:172413800-172419000	Weak transcription	Liver	Liver
35	chr1:172413800-172419000	Weak transcription	Brain Anterior Caudate	brain
36	chr1:172413800-172419000	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:172413800-172419000	Weak transcription	Brain Substantia Nigra	brain
38	chr1:172413800-172419000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:172413800-172419400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:172413800-172419400	Weak transcription	NHDF-Ad	bronchial
41	chr1:172414000-172418400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:172414000-172418800	Weak transcription	Primary B cells from cord blood	blood
43	chr1:172414000-172418800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:172414000-172418800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:172414000-172418800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:172414000-172419000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:172414200-172418000	Weak transcription	HUVEC	blood vessel
48	chr1:172414400-172419200	Weak transcription	Dnd41	blood
49	chr1:172415400-172420000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:172415400-172420400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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