Variant report

Variant	rs61849057
Chromosome Location	chr1:225972461-225972462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225963461..225967975-chr1:225968057..225975345,14	MCF-7	breast:
2	chr1:225948184..225950809-chr1:225971310..225972848,2	K562	blood:

Variant related genes	Relation type
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11583073	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11583078	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11583940	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11584433	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11589896	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12031296	0.88[AFR][1000 genomes]
rs12033707	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12033739	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12045518	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12047698	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12735768	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12757406	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17571004	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56866192	0.85[AFR][1000 genomes]
rs7530073	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225966200-225973400	Weak transcription	Esophagus	oesophagus
2	chr1:225966800-225972600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:225966800-225978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:225967000-225973600	Weak transcription	HSMMtube	muscle
5	chr1:225967200-225972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:225967200-225978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:225967600-225973600	Weak transcription	Fetal Kidney	kidney
8	chr1:225967800-225980200	Weak transcription	Stomach Mucosa	stomach
9	chr1:225968200-225972600	Weak transcription	Lung	lung
10	chr1:225968200-225972600	Weak transcription	Pancreas	Pancrea
11	chr1:225968200-225972800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:225968200-225972800	Weak transcription	Gastric	stomach
13	chr1:225968200-225972800	Weak transcription	Right Ventricle	heart
14	chr1:225968200-225973600	Weak transcription	Aorta	Aorta
15	chr1:225968200-225973600	Weak transcription	Colonic Mucosa	Colon
16	chr1:225968200-225980000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:225968600-225978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:225968800-225972600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:225968800-225972600	Weak transcription	Psoas Muscle	Psoas
20	chr1:225968800-225973600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:225968800-225976200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:225968800-225976800	Strong transcription	NHEK	skin
23	chr1:225969000-225977200	Strong transcription	HMEC	breast
24	chr1:225969400-225972600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:225969400-225976000	Weak transcription	Small Intestine	intestine
26	chr1:225969800-225976800	Strong transcription	Fetal Intestine Large	intestine
27	chr1:225969800-225983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:225970000-225978400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:225970200-225976000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:225970200-225978600	Strong transcription	Fetal Thymus	thymus
31	chr1:225970200-225979800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:225970200-225983200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:225970400-225977200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:225970600-225972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:225970600-225973600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:225970600-225973600	Weak transcription	NHLF	lung
37	chr1:225970600-225974200	Weak transcription	Fetal Heart	heart
38	chr1:225970600-225977400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:225970600-225978400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:225970600-225978400	Strong transcription	Dnd41	blood
41	chr1:225970600-225980000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr1:225970600-225980600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:225970600-225981800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:225970800-225972800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:225970800-225973600	Weak transcription	Brain Substantia Nigra	brain
46	chr1:225970800-225973800	Weak transcription	Fetal Brain Male	brain
47	chr1:225970800-225974600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:225970800-225976000	Strong transcription	Hela-S3	cervix
49	chr1:225970800-225977200	Strong transcription	K562	blood
50	chr1:225970800-225977400	Strong transcription	Liver	Liver

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