Variant report

Variant	rs2038698
Chromosome Location	chr1:93822830-93822831
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11164922	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11811006	0.82[EUR][1000 genomes]
rs12069440	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12096122	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12405666	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12409621	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12411095	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1582773	0.82[EUR][1000 genomes]
rs17131718	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17131741	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17386609	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1895903	0.82[EUR][1000 genomes]
rs2081568	0.81[EUR][1000 genomes]
rs3088371	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4347219	0.81[EUR][1000 genomes]
rs57710451	0.82[EUR][1000 genomes]
rs60013975	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61101021	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66804824	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67998457	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72715394	0.81[EUR][1000 genomes]
rs72717337	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72717354	0.81[EUR][1000 genomes]
rs72717374	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72719185	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339890	0.82[EUR][1000 genomes]
rs900310	0.82[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93812800-93823800	Weak transcription	Spleen	Spleen
2	chr1:93812800-93831000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93812800-93832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:93813000-93823800	Weak transcription	Gastric	stomach
5	chr1:93813400-93840000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:93813400-93840400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:93814200-93823600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:93814200-93823800	Weak transcription	Right Ventricle	heart
9	chr1:93815400-93839800	Weak transcription	Aorta	Aorta
10	chr1:93815600-93834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:93816000-93823800	Weak transcription	Stomach Mucosa	stomach
12	chr1:93816000-93832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:93816200-93823400	Weak transcription	HSMMtube	muscle
14	chr1:93816600-93841800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:93816800-93841200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:93817400-93823400	Weak transcription	Lung	lung
17	chr1:93817600-93823800	Weak transcription	Fetal Brain Female	brain
18	chr1:93817600-93824600	Strong transcription	Fetal Intestine Large	intestine
19	chr1:93817800-93832400	Weak transcription	Psoas Muscle	Psoas
20	chr1:93818000-93826400	Strong transcription	Placenta	Placenta
21	chr1:93818000-93835400	Weak transcription	Small Intestine	intestine
22	chr1:93818200-93823600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:93818200-93823600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:93818200-93823800	Weak transcription	Pancreas	Pancrea
25	chr1:93818200-93826400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:93818200-93826600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:93818400-93823200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:93818400-93823600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:93818400-93823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:93818400-93823800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:93818400-93824200	Weak transcription	Brain Substantia Nigra	brain
32	chr1:93818400-93824400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr1:93818400-93825600	Strong transcription	Primary B cells from cord blood	blood
34	chr1:93818400-93826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:93818400-93836000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:93818600-93823600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:93818600-93823600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:93818600-93823600	Weak transcription	Fetal Heart	heart
39	chr1:93818600-93824600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr1:93818800-93827200	Strong transcription	Fetal Thymus	thymus
41	chr1:93818800-93837200	Weak transcription	Fetal Kidney	kidney
42	chr1:93819000-93823600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:93819000-93828000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:93819000-93833200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:93819200-93823800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:93819200-93823800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:93819200-93824800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:93819200-93826400	Strong transcription	HUVEC	blood vessel
49	chr1:93819400-93826400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:93819400-93832000	Strong transcription	HSMM	muscle

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