Variant report

Variant	rs3008636
Chromosome Location	chr1:222853108-222853109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222852029..222855795-chr1:222856655..222859016,3	K562	blood:
2	chr1:222850841..222853779-chr1:222868153..222870820,2	MCF-7	breast:
3	chr1:222849453..222853444-chr1:222884619..222888596,6	K562	blood:

Variant related genes	Relation type
ENSG00000186063	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2936028	1.00[AFR][1000 genomes]
rs2936029	1.00[AFR][1000 genomes]
rs2936042	1.00[AFR][1000 genomes]
rs2936043	1.00[AFR][1000 genomes]
rs2936053	1.00[AFR][1000 genomes]
rs3002127	1.00[AFR][1000 genomes]
rs3002135	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs3002153	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs3008619	1.00[AFR][1000 genomes]
rs3008643	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs3008646	1.00[AFR][1000 genomes]
rs3008648	0.87[AFR][1000 genomes]
rs3008649	1.00[AFR][1000 genomes]
rs3008652	1.00[AFR][1000 genomes]
rs35877231	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222835200-222884600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222839000-222854400	Weak transcription	Lung	lung
3	chr1:222839000-222859800	Weak transcription	Small Intestine	intestine
4	chr1:222839000-222877400	Weak transcription	Psoas Muscle	Psoas
5	chr1:222839000-222884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:222839200-222861200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:222839600-222884600	Weak transcription	Esophagus	oesophagus
8	chr1:222839800-222859600	Weak transcription	Brain Angular Gyrus	brain
9	chr1:222839800-222859600	Weak transcription	Fetal Brain Male	brain
10	chr1:222840000-222884600	Weak transcription	Colonic Mucosa	Colon
11	chr1:222841000-222859600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:222841200-222866200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:222841200-222883400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:222841400-222883200	Weak transcription	Fetal Heart	heart
15	chr1:222842800-222867800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:222843400-222860200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:222844000-222863600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:222845000-222859600	Weak transcription	Spleen	Spleen
19	chr1:222845000-222866800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:222845000-222884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:222845200-222859600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:222845200-222859600	Weak transcription	Hela-S3	cervix
23	chr1:222845200-222864400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:222845400-222855000	Weak transcription	Gastric	stomach
25	chr1:222845400-222859400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:222845600-222859600	Weak transcription	Fetal Kidney	kidney
27	chr1:222846200-222853400	Weak transcription	Pancreas	Pancrea
28	chr1:222846200-222858400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:222846200-222859000	Weak transcription	Thymus	Thymus
30	chr1:222846200-222859200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:222846200-222859400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:222846200-222859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:222846200-222859400	Weak transcription	GM12878-XiMat	blood
34	chr1:222846200-222859600	Weak transcription	Aorta	Aorta
35	chr1:222846400-222858200	Weak transcription	Fetal Lung	lung
36	chr1:222846400-222858400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:222846400-222859400	Weak transcription	Brain Substantia Nigra	brain
38	chr1:222846400-222859400	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:222846400-222859400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:222846600-222859600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:222847600-222859600	Weak transcription	HepG2	liver
42	chr1:222847800-222854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:222847800-222859600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:222847800-222872000	Weak transcription	Fetal Intestine Small	intestine
45	chr1:222848800-222859600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:222849000-222858200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:222849200-222854600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:222849200-222854800	Weak transcription	NHEK	skin
49	chr1:222849200-222858400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:222849200-222859600	Weak transcription	Brain Hippocampus Middle	brain

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