Variant report

Variant	rs1991291
Chromosome Location	chr1:93930933-93930934
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1545839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433277	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449376	0.87[AFR][1000 genomes];1.00[AMR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93915200-93935800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93915200-93937000	Weak transcription	Esophagus	oesophagus
3	chr1:93915200-93937000	Weak transcription	Lung	lung
4	chr1:93915400-93931000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:93916400-93934800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:93916800-93932800	Weak transcription	Fetal Kidney	kidney
7	chr1:93917600-93937200	Weak transcription	Fetal Brain Male	brain
8	chr1:93919800-93937000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:93920000-93936800	Weak transcription	NH-A	brain
10	chr1:93920000-93943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:93920400-93936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:93921000-93932400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:93921200-93936000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:93921200-93936600	Weak transcription	HUVEC	blood vessel
15	chr1:93921200-93937000	Weak transcription	Left Ventricle	heart
16	chr1:93921200-93939800	Weak transcription	Right Ventricle	heart
17	chr1:93922600-93944000	Weak transcription	Gastric	stomach
18	chr1:93924000-93933200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:93924400-93937000	Weak transcription	Fetal Lung	lung
20	chr1:93924800-93932400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:93925200-93931200	Weak transcription	HSMMtube	muscle
22	chr1:93925800-93937000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:93926000-93937200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:93926800-93936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:93927200-93936400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:93927600-93932400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:93927600-93935600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:93927600-93943800	Weak transcription	Pancreas	Pancrea
29	chr1:93928400-93936600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:93929000-93946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:93929400-93936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:93930000-93937200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:93930200-93933600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:93930600-93943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:93930800-93933200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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