Variant report

Variant	rs16844423
Chromosome Location	chr1:172385769-172385770
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	REST	chr1:172385631-172385885	H1-hESC	embryonic stem cell:	n/a	chr1:172385764-172385778

No.	Distal block	Cell Line	Cell type
1	chr1:172385755..172389106-chr1:172391207..172393719,3	K562	blood:
2	chr1:172370747..172372510-chr1:172384588..172387579,2	K562	blood:
3	chr1:172379952..172381876-chr1:172385382..172387129,2	MCF-7	breast:

Variant related genes	Relation type
C1orf105	TF binding region
PIGC	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1029319	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10489283	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10911692	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10911765	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12095658	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60183720	0.84[AFR][1000 genomes]
rs73046884	0.84[AFR][1000 genomes]
rs7533968	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172352400-172386400	Weak transcription	Psoas Muscle	Psoas
2	chr1:172368400-172390800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:172373000-172390800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:172373000-172390800	Weak transcription	Brain Substantia Nigra	brain
5	chr1:172373000-172411800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:172379400-172386600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:172382200-172390800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:172383000-172387600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:172383000-172388600	Enhancers	NHEK	skin
10	chr1:172383400-172387600	Enhancers	HMEC	breast
11	chr1:172383800-172387200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:172384400-172386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:172384400-172398400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:172385000-172386800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:172385000-172391600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:172385200-172385800	Enhancers	Fetal Kidney	kidney
17	chr1:172385200-172385800	Enhancers	Fetal Lung	lung
18	chr1:172385200-172386000	Enhancers	Primary T cells from cord blood	blood
19	chr1:172385400-172385800	Enhancers	A549	lung
20	chr1:172385400-172387400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:172385400-172387600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:172385400-172388000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:172385600-172385800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:172385600-172385800	Enhancers	Fetal Stomach	stomach
25	chr1:172385600-172386000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:172385600-172386800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:172385600-172387400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:172385600-172387400	Enhancers	HUES64 Cell Line	embryonic stem cell

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