Variant report

Variant	rs72961366
Chromosome Location	chr1:93926577-93926578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93912498..93914053-chr1:93926034..93928789,2	MCF-7	breast:
2	chr1:93925078..93926915-chr1:93927415..93930366,3	K562	blood:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11164950	1.00[EUR][1000 genomes]
rs1593513	0.94[ASN][1000 genomes]
rs1593514	0.94[ASN][1000 genomes]
rs1593515	0.94[ASN][1000 genomes]
rs1863500	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs236325	1.00[EUR][1000 genomes]
rs236327	1.00[EUR][1000 genomes]
rs236328	1.00[EUR][1000 genomes]
rs236334	1.00[EUR][1000 genomes]
rs237424	1.00[EUR][1000 genomes]
rs237426	1.00[EUR][1000 genomes]
rs237427	1.00[EUR][1000 genomes]
rs237428	1.00[EUR][1000 genomes]
rs237429	1.00[EUR][1000 genomes]
rs237430	1.00[EUR][1000 genomes]
rs2449377	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2493642	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2554841	0.88[ASN][1000 genomes]
rs2624438	0.88[ASN][1000 genomes]
rs2818968	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4475764	0.94[ASN][1000 genomes]
rs57438388	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57440609	0.94[ASN][1000 genomes]
rs57453256	0.94[ASN][1000 genomes]
rs57974365	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58212333	1.00[ASN][1000 genomes]
rs58430978	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58591926	0.94[ASN][1000 genomes]
rs59039419	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60515224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60717381	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61096581	0.82[ASN][1000 genomes]
rs61231069	0.82[ASN][1000 genomes]
rs6657187	0.94[ASN][1000 genomes]
rs72961357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961373	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961379	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961386	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961389	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7547495	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7553492	1.00[EUR][1000 genomes]
rs7554661	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93915200-93926800	Weak transcription	Pancreas	Pancrea
2	chr1:93915200-93927800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:93915200-93928600	Weak transcription	Ovary	ovary
4	chr1:93915200-93929600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:93915200-93929800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:93915200-93935800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:93915200-93937000	Weak transcription	Esophagus	oesophagus
8	chr1:93915200-93937000	Weak transcription	Lung	lung
9	chr1:93915400-93926600	Weak transcription	Liver	Liver
10	chr1:93915400-93926800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:93915400-93926800	Weak transcription	Psoas Muscle	Psoas
12	chr1:93915400-93929800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:93915400-93931000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:93916400-93926600	Weak transcription	Primary B cells from cord blood	blood
15	chr1:93916400-93934800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:93916800-93929400	Weak transcription	Brain Germinal Matrix	brain
17	chr1:93916800-93930400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:93916800-93932800	Weak transcription	Fetal Kidney	kidney
19	chr1:93917600-93937200	Weak transcription	Fetal Brain Male	brain
20	chr1:93918200-93928800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:93919800-93937000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:93920000-93927600	Weak transcription	Hela-S3	cervix
23	chr1:93920000-93928200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:93920000-93936800	Weak transcription	NH-A	brain
25	chr1:93920000-93943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:93920400-93929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:93920400-93936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:93921000-93932400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:93921200-93936000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:93921200-93936600	Weak transcription	HUVEC	blood vessel
31	chr1:93921200-93937000	Weak transcription	Left Ventricle	heart
32	chr1:93921200-93939800	Weak transcription	Right Ventricle	heart
33	chr1:93922400-93927600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:93922600-93927600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:93922600-93944000	Weak transcription	Gastric	stomach
36	chr1:93923200-93927200	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:93923200-93928200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:93924000-93933200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:93924200-93926600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:93924400-93929200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:93924400-93937000	Weak transcription	Fetal Lung	lung
42	chr1:93924800-93926600	Weak transcription	Fetal Stomach	stomach
43	chr1:93924800-93927600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:93924800-93932400	Weak transcription	Fetal Intestine Small	intestine
45	chr1:93925200-93927600	Weak transcription	HSMM	muscle
46	chr1:93925200-93928400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:93925200-93931200	Weak transcription	HSMMtube	muscle
48	chr1:93925400-93929600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:93925600-93927000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr1:93925800-93926800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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