Variant report

Variant	rs1933593
Chromosome Location	chr1:212206838-212206839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212177960..212180622-chr1:212206233..212208126,3	K562	blood:
2	chr1:212181923..212187043-chr1:212203247..212211054,10	K562	blood:
3	chr1:212137132..212139456-chr1:212205967..212208456,2	K562	blood:
4	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
5	chr1:211871387..211873380-chr1:212206140..212208197,2	K562	blood:
6	chr1:212204655..212207528-chr1:212612348..212614666,2	K562	blood:
7	chr1:212136540..212140893-chr1:212203669..212207467,3	K562	blood:
8	chr1:211853907..211855478-chr1:212205720..212208176,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000143493	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10779568	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863939	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119839	0.80[ASN][1000 genomes]
rs11119840	0.80[ASN][1000 genomes]
rs1578992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1578993	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1806360	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2014029	0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2130503	0.82[ASN][1000 genomes]
rs2248191	0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2251398	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2358386	1.00[ASW][hapmap];0.96[CEU][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2358440	0.90[JPT][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs2788133	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2788139	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2788140	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes]
rs2808385	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2808392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2884428	0.88[CHD][hapmap];0.95[JPT][hapmap]
rs2884457	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2970592	0.86[ASN][1000 genomes]
rs2970599	0.94[ASW][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap]
rs2970601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2993528	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2993529	0.80[ASN][1000 genomes]
rs2993531	0.94[ASW][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];0.86[YRI][hapmap]
rs2993533	0.94[ASW][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap]
rs2993541	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2993544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3009985	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3010003	0.94[ASW][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap]
rs3010004	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3010023	0.90[JPT][hapmap];0.89[YRI][hapmap];0.86[ASN][1000 genomes]
rs3738449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6657728	0.88[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6670844	0.82[ASN][1000 genomes]
rs7522330	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7550754	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1933593	PROX1	cis	cerebellum	SCAN
rs1933593	SYT14	cis	parietal	SCAN
rs1933593	INTS7	Cis_1M	lymphoblastoid	RTeQTL
rs1933593	MAPKAPK2	cis	parietal	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212133800-212208000	Weak transcription	Gastric	stomach
2	chr1:212134000-212207600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:212134000-212207800	Weak transcription	Colonic Mucosa	Colon
4	chr1:212148800-212207600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:212170800-212207800	Weak transcription	Right Ventricle	heart
6	chr1:212171200-212208000	Weak transcription	Esophagus	oesophagus
7	chr1:212171200-212208000	Weak transcription	Lung	lung
8	chr1:212171600-212207400	Weak transcription	Fetal Stomach	stomach
9	chr1:212171800-212207600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:212190200-212207800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:212190400-212207800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:212192200-212208000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212194200-212207800	Weak transcription	Left Ventricle	heart
14	chr1:212194400-212207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:212194400-212207600	Weak transcription	Fetal Thymus	thymus
16	chr1:212198400-212207600	Weak transcription	Fetal Kidney	kidney
17	chr1:212198600-212207200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:212198600-212207600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:212198800-212207000	Weak transcription	Primary B cells from cord blood	blood
20	chr1:212198800-212207400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:212200200-212207800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:212200200-212207800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:212200600-212207600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:212200600-212207800	Weak transcription	Brain Angular Gyrus	brain
25	chr1:212200600-212207800	Weak transcription	Brain Substantia Nigra	brain
26	chr1:212201200-212207200	Enhancers	HepG2	liver
27	chr1:212201600-212207800	Weak transcription	Stomach Mucosa	stomach
28	chr1:212201600-212208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:212201600-212208000	Weak transcription	Pancreas	Pancrea
30	chr1:212202600-212207000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:212202600-212207600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:212202800-212207600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:212202800-212207800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:212202800-212207800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr1:212202800-212207800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:212203400-212207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:212203800-212207600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:212203800-212207600	Weak transcription	Psoas Muscle	Psoas
39	chr1:212204000-212207800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:212204200-212207800	Enhancers	Fetal Heart	heart
41	chr1:212204400-212207400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:212204600-212207600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr1:212204600-212208000	Weak transcription	Spleen	Spleen
44	chr1:212204800-212207600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:212205000-212207400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:212205000-212207400	Enhancers	NHDF-Ad	bronchial
47	chr1:212205000-212207600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:212205000-212207600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:212205000-212207600	Weak transcription	Adipose Nuclei	Adipose
50	chr1:212205000-212207600	Weak transcription	Rectal Mucosa Donor 29	rectum

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