Variant report

Variant	rs2970588
Chromosome Location	chr1:212207172-212207173
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212177960..212180622-chr1:212206233..212208126,3	K562	blood:
2	chr1:212142033..212144283-chr1:212206917..212209374,2	K562	blood:
3	chr1:212181923..212187043-chr1:212203247..212211054,10	K562	blood:
4	chr1:212137132..212139456-chr1:212205967..212208456,2	K562	blood:
5	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
6	chr1:212206891..212208441-chr1:212211909..212213931,2	MCF-7	breast:
7	chr1:211871387..211873380-chr1:212206140..212208197,2	K562	blood:
8	chr1:212204655..212207528-chr1:212612348..212614666,2	K562	blood:
9	chr1:212136540..212140893-chr1:212203669..212207467,3	K562	blood:
10	chr1:212002304..212005337-chr1:212206926..212210304,4	K562	blood:
11	chr1:212184529..212186284-chr1:212207112..212208780,2	MCF-7	breast:
12	chr1:211852709..211854436-chr1:212207075..212208654,2	K562	blood:
13	chr1:211853907..211855478-chr1:212205720..212208176,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231057	Chromatin interaction
ENSG00000066027	Chromatin interaction
ENSG00000123684	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000229258	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10863933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10863934	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10863938	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10863940	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2788128	1.00[AMR][1000 genomes]
rs2788129	1.00[AMR][1000 genomes]
rs2788130	1.00[AMR][1000 genomes]
rs2788131	1.00[AMR][1000 genomes]
rs2788134	1.00[AMR][1000 genomes]
rs2788136	1.00[AMR][1000 genomes]
rs2788137	1.00[AMR][1000 genomes]
rs2808380	0.83[AFR][1000 genomes]
rs2808384	1.00[AMR][1000 genomes]
rs2808387	1.00[AMR][1000 genomes]
rs2808390	1.00[AMR][1000 genomes]
rs2970573	1.00[AMR][1000 genomes]
rs2970574	1.00[AMR][1000 genomes]
rs2970575	1.00[AMR][1000 genomes]
rs2970585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970590	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970594	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970596	0.94[EUR][1000 genomes]
rs2970597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970598	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970600	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970602	1.00[AMR][1000 genomes]
rs2993524	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993525	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993526	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993527	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993530	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2993532	0.80[AFR][1000 genomes]
rs2993536	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2993537	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2993540	1.00[AMR][1000 genomes]
rs2993542	1.00[AMR][1000 genomes]
rs2993546	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993548	1.00[AMR][1000 genomes]
rs2993549	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009983	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009986	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3009990	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3009992	1.00[AMR][1000 genomes]
rs3009993	1.00[AMR][1000 genomes]
rs3009994	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3009995	1.00[AMR][1000 genomes]
rs3009996	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3009998	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3009999	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010000	1.00[AMR][1000 genomes]
rs3010001	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010005	0.83[AFR][1000 genomes]
rs3010008	1.00[AMR][1000 genomes]
rs3010014	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010015	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010017	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010018	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010021	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4951437	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4951565	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6540717	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6540718	1.00[AMR][1000 genomes]
rs6656826	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6658972	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6660399	1.00[AMR][1000 genomes]
rs6672030	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6683980	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6704044	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7532954	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7551276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

No data

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	chr1:212194400-212207600	Weak transcription	Fetal Thymus	thymus
15	chr1:212198400-212207600	Weak transcription	Fetal Kidney	kidney
16	chr1:212198600-212207200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:212198600-212207600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:212198800-212207400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:212200200-212207800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:212200200-212207800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:212200600-212207600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:212200600-212207800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:212200600-212207800	Weak transcription	Brain Substantia Nigra	brain
24	chr1:212201200-212207200	Enhancers	HepG2	liver
25	chr1:212201600-212207800	Weak transcription	Stomach Mucosa	stomach
26	chr1:212201600-212208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:212201600-212208000	Weak transcription	Pancreas	Pancrea
28	chr1:212202600-212207600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:212202800-212207600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:212202800-212207800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:212202800-212207800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:212202800-212207800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:212203400-212207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:212203800-212207600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:212203800-212207600	Weak transcription	Psoas Muscle	Psoas
36	chr1:212204000-212207800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:212204200-212207800	Enhancers	Fetal Heart	heart
38	chr1:212204400-212207400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:212204600-212207600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:212204600-212208000	Weak transcription	Spleen	Spleen
41	chr1:212204800-212207600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:212205000-212207400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:212205000-212207400	Enhancers	NHDF-Ad	bronchial
44	chr1:212205000-212207600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:212205000-212207600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:212205000-212207600	Weak transcription	Adipose Nuclei	Adipose
47	chr1:212205000-212207600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:212205000-212207600	Weak transcription	HSMM	muscle
49	chr1:212205000-212207800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:212205000-212207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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