Variant report

Variant	rs74104033
Chromosome Location	chr1:93928418-93928419
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93922785..93924778-chr1:93927181..93929683,2	K562	blood:
2	chr1:93912774..93914289-chr1:93927534..93929233,2	K562	blood:
3	chr1:93912498..93914053-chr1:93926034..93928789,2	MCF-7	breast:
4	chr1:93925078..93926915-chr1:93927415..93930366,3	K562	blood:
5	chr1:93922785..93925448-chr1:93927181..93928784,2	K562	blood:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10157785	1.00[EUR][1000 genomes]
rs11799859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802421	1.00[EUR][1000 genomes]
rs11805046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13373766	1.00[EUR][1000 genomes]
rs17109954	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110016	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17110023	0.86[AFR][1000 genomes]
rs17131715	1.00[EUR][1000 genomes]
rs17131717	1.00[EUR][1000 genomes]
rs35555794	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55670441	1.00[EUR][1000 genomes]
rs55742446	1.00[EUR][1000 genomes]
rs55959166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57291093	1.00[EUR][1000 genomes]
rs57353954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58343196	0.84[AFR][1000 genomes]
rs58351576	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58505360	1.00[EUR][1000 genomes]
rs59045869	1.00[EUR][1000 genomes]
rs59250599	1.00[EUR][1000 genomes]
rs60032869	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60046384	1.00[EUR][1000 genomes]
rs60517691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61215181	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61671588	1.00[EUR][1000 genomes]
rs6541360	1.00[EUR][1000 genomes]
rs6541378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664053	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682265	1.00[EUR][1000 genomes]
rs6687167	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6703963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72957300	1.00[EUR][1000 genomes]
rs72961310	1.00[EUR][1000 genomes]
rs74101464	1.00[EUR][1000 genomes]
rs74101603	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74101663	1.00[EUR][1000 genomes]
rs74101667	1.00[EUR][1000 genomes]
rs74101669	1.00[EUR][1000 genomes]
rs74101670	1.00[EUR][1000 genomes]
rs74104019	0.83[AMR][1000 genomes]
rs7518171	1.00[EUR][1000 genomes]
rs7525388	1.00[EUR][1000 genomes]
rs7530923	1.00[EUR][1000 genomes]
rs7545358	1.00[EUR][1000 genomes]
rs754899	1.00[EUR][1000 genomes]
rs9662414	1.00[EUR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93915200-93928600	Weak transcription	Ovary	ovary
2	chr1:93915200-93929600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:93915200-93929800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:93915200-93935800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:93915200-93937000	Weak transcription	Esophagus	oesophagus
6	chr1:93915200-93937000	Weak transcription	Lung	lung
7	chr1:93915400-93929800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:93915400-93931000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:93916400-93934800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:93916800-93929400	Weak transcription	Brain Germinal Matrix	brain
11	chr1:93916800-93930400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:93916800-93932800	Weak transcription	Fetal Kidney	kidney
13	chr1:93917600-93937200	Weak transcription	Fetal Brain Male	brain
14	chr1:93918200-93928800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:93919800-93937000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:93920000-93936800	Weak transcription	NH-A	brain
17	chr1:93920000-93943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:93920400-93929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:93920400-93936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:93921000-93932400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:93921200-93936000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:93921200-93936600	Weak transcription	HUVEC	blood vessel
23	chr1:93921200-93937000	Weak transcription	Left Ventricle	heart
24	chr1:93921200-93939800	Weak transcription	Right Ventricle	heart
25	chr1:93922600-93944000	Weak transcription	Gastric	stomach
26	chr1:93924000-93933200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:93924400-93929200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:93924400-93937000	Weak transcription	Fetal Lung	lung
29	chr1:93924800-93932400	Weak transcription	Fetal Intestine Small	intestine
30	chr1:93925200-93931200	Weak transcription	HSMMtube	muscle
31	chr1:93925400-93929600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:93925800-93937000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:93926000-93937200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:93926400-93929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:93926800-93936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:93927000-93929000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:93927000-93929800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:93927200-93936400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:93927600-93929000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:93927600-93932400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:93927600-93935600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:93927600-93943800	Weak transcription	Pancreas	Pancrea
43	chr1:93928200-93929400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:93928200-93930800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:93928400-93928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:93928400-93936600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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