Variant report

Variant	rs16844474
Chromosome Location	chr1:172417558-172417559
allele	A/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	CTCF	chr1:172417456-172420817	A549	lung:	n/a	chr1:172419229-172419247 chr1:172420251-172420259 chr1:172419777-172419790 chr1:172419234-172419242 chr1:172419231-172419252
2	REST	chr1:172416687-172417636	HL-60	blood:	n/a	n/a

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: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1014928	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10489282	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.93[EUR][1000 genomes]
rs1063412	1.00[YRI][hapmap]
rs16844498	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs16844500	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs16844502	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs16844519	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs16844585	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs41263736	0.93[EUR][1000 genomes]
rs41310899	0.87[AFR][1000 genomes]
rs56212963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126223	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172413600-172417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:172413600-172417800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:172413600-172417800	Weak transcription	Placenta	Placenta
4	chr1:172413600-172418000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:172413600-172418000	Weak transcription	HSMMtube	muscle
6	chr1:172413600-172418000	Weak transcription	NH-A	brain
7	chr1:172413600-172418400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:172413600-172418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:172413600-172418600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:172413600-172418600	Weak transcription	Esophagus	oesophagus
11	chr1:172413600-172418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:172413600-172418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:172413600-172418800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:172413600-172418800	Weak transcription	Lung	lung
15	chr1:172413600-172418800	Weak transcription	Small Intestine	intestine
16	chr1:172413600-172419000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:172413600-172419000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:172413600-172419000	Weak transcription	Fetal Thymus	thymus
19	chr1:172413600-172419000	Weak transcription	Right Ventricle	heart
20	chr1:172413600-172419200	Weak transcription	Fetal Heart	heart
21	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:172413800-172417800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:172413800-172417800	Weak transcription	Fetal Kidney	kidney
25	chr1:172413800-172418200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:172413800-172418200	Weak transcription	K562	blood
27	chr1:172413800-172418800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:172413800-172418800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:172413800-172418800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:172413800-172418800	Weak transcription	GM12878-XiMat	blood
31	chr1:172413800-172419000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:172413800-172419000	Weak transcription	Primary T cells from cord blood	blood
33	chr1:172413800-172419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:172413800-172419000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:172413800-172419000	Weak transcription	Liver	Liver
36	chr1:172413800-172419000	Weak transcription	Brain Anterior Caudate	brain
37	chr1:172413800-172419000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:172413800-172419000	Weak transcription	Brain Substantia Nigra	brain
39	chr1:172413800-172419000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:172413800-172419400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:172413800-172419400	Weak transcription	NHDF-Ad	bronchial
42	chr1:172414000-172418400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:172414000-172418800	Weak transcription	Primary B cells from cord blood	blood
44	chr1:172414000-172418800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:172414000-172418800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:172414000-172418800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:172414000-172419000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:172414200-172418000	Weak transcription	HUVEC	blood vessel
49	chr1:172414400-172419200	Weak transcription	Dnd41	blood
50	chr1:172415400-172420000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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