Variant report

Variant	rs72709448
Chromosome Location	chr1:179055949-179055950
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179055586..179058220-chr1:179072453..179074387,2	K562	blood:
2	chr1:179055416..179057535-chr1:179059266..179061374,2	MCF-7	breast:
3	chr1:179050583..179053327-chr1:179055726..179057422,3	K562	blood:

Variant related genes	Relation type
ENSG00000186283	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16853590	0.81[AMR][1000 genomes]
rs16853612	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16853647	0.84[ASN][1000 genomes]
rs2018786	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2296376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766623	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3766625	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3813639	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3813640	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45628232	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55854504	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56006430	0.87[AMR][1000 genomes]
rs56032836	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67939704	0.83[ASN][1000 genomes]
rs72709441	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72709445	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9249	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179052200-179062200	Weak transcription	Small Intestine	intestine
2	chr1:179052400-179056000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:179052400-179056000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:179052400-179056200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:179052400-179056400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:179052400-179056600	Weak transcription	Right Atrium	heart
7	chr1:179052400-179056600	Weak transcription	HUVEC	blood vessel
8	chr1:179052400-179058800	Weak transcription	NH-A	brain
9	chr1:179052400-179059000	Weak transcription	Psoas Muscle	Psoas
10	chr1:179052400-179060000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:179052400-179060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:179052400-179060800	Weak transcription	Fetal Lung	lung
13	chr1:179052400-179062600	Weak transcription	Fetal Kidney	kidney
14	chr1:179052600-179056000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:179052600-179056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:179052600-179056800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:179052600-179057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:179052600-179058800	Weak transcription	NHDF-Ad	bronchial
19	chr1:179052600-179064200	Weak transcription	Fetal Brain Male	brain
20	chr1:179052800-179056200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:179052800-179057400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:179052800-179059400	Weak transcription	Fetal Heart	heart
23	chr1:179053000-179056200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:179053000-179056600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:179053000-179059600	Weak transcription	HSMM	muscle
26	chr1:179053000-179060400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:179053000-179072200	Strong transcription	Primary T cells from cord blood	blood
28	chr1:179053200-179056200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:179053200-179056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:179053200-179056200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:179053200-179056600	Genic enhancers	Dnd41	blood
32	chr1:179053200-179057600	Weak transcription	HMEC	breast
33	chr1:179053200-179057600	Weak transcription	HSMMtube	muscle
34	chr1:179053200-179062400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:179053200-179063000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:179053200-179064000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:179053200-179067600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:179053200-179071000	Strong transcription	NHEK	skin
39	chr1:179053200-179096000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:179053400-179056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:179053400-179058200	Strong transcription	K562	blood
42	chr1:179053400-179059000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:179053400-179062000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:179053400-179062200	Weak transcription	Stomach Mucosa	stomach
45	chr1:179053400-179067400	Strong transcription	Fetal Intestine Small	intestine
46	chr1:179053600-179056600	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:179053600-179060000	Strong transcription	A549	lung
48	chr1:179053800-179056000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:179053800-179056000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:179053800-179056000	Strong transcription	HepG2	liver

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