Variant report

Variant	rs61819119
Chromosome Location	chr1:197147800-197147801
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197114351..197115870-chr1:197146809..197149280,2	K562	blood:
2	chr1:197114370..197116818-chr1:197147780..197150454,2	K562	blood:
3	chr1:197147456..197149812-chr1:197152847..197154402,2	K562	blood:
4	chr1:197147159..197149078-chr1:197192241..197194774,2	MCF-7	breast:
5	chr1:197145604..197149489-chr1:197168238..197172355,4	K562	blood:
6	chr1:197136628..197139600-chr1:197145114..197148034,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177888	Chromatin interaction
ENSG00000134376	Chromatin interaction
ENSG00000066279	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10737688	0.89[ASN][1000 genomes]
rs10754217	0.87[ASN][1000 genomes]
rs1127661	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17514309	0.81[AFR][1000 genomes]
rs17550014	0.91[AFR][1000 genomes]
rs17550411	0.91[AFR][1000 genomes]
rs1794011	0.81[AFR][1000 genomes]
rs2878749	0.91[AFR][1000 genomes]
rs3762271	0.91[AFR][1000 genomes]
rs41304071	0.91[AFR][1000 genomes]
rs41308365	0.91[AFR][1000 genomes]
rs41310911	0.91[AFR][1000 genomes]
rs41310927	0.91[AFR][1000 genomes]
rs4581302	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4628533	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55857606	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56084994	0.91[AFR][1000 genomes]
rs56111948	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56387334	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5996	0.81[AFR][1000 genomes]
rs61819087	0.91[AFR][1000 genomes]
rs61819089	0.91[AFR][1000 genomes]
rs61819095	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61819096	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61819114	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61819115	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819116	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819117	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819118	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819121	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819122	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819124	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6677930	0.84[ASN][1000 genomes]
rs6690730	0.91[AFR][1000 genomes]
rs72736469	0.81[AFR][1000 genomes]
rs72736474	0.91[AFR][1000 genomes]
rs72738635	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72738637	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72738645	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72738652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7410943	0.91[ASN][1000 genomes]
rs955927	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116400-197155000	Weak transcription	Fetal Brain Male	brain
2	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:197121600-197154800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:197124600-197155400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:197125200-197156000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:197125200-197156400	Weak transcription	Right Ventricle	heart
7	chr1:197125400-197155600	Weak transcription	Fetal Stomach	stomach
8	chr1:197125400-197156200	Weak transcription	Pancreas	Pancrea
9	chr1:197125400-197156400	Weak transcription	Aorta	Aorta
10	chr1:197125400-197156400	Weak transcription	Lung	lung
11	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
12	chr1:197125600-197160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
14	chr1:197125800-197158400	Weak transcription	Spleen	Spleen
15	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:197127000-197148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:197128200-197161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:197128400-197157000	Weak transcription	Colonic Mucosa	Colon
19	chr1:197129000-197155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:197129200-197149200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:197130200-197148400	Weak transcription	Ovary	ovary
22	chr1:197130200-197149000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:197130200-197156200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:197132400-197148000	Weak transcription	HSMMtube	muscle
25	chr1:197132400-197154800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:197132400-197156400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:197134800-197148000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:197135200-197161800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:197135400-197148200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:197136000-197161600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:197136200-197148000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:197139800-197150600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:197139800-197151000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:197140200-197150600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:197140200-197151800	Weak transcription	Stomach Mucosa	stomach
36	chr1:197140800-197148600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:197140800-197151200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:197141400-197166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:197141600-197150400	Strong transcription	Dnd41	blood
40	chr1:197142000-197159600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:197142200-197150400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:197142200-197150600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:197142200-197150800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:197142200-197159800	Strong transcription	Fetal Thymus	thymus
45	chr1:197142400-197150200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:197142400-197153400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:197142600-197152800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:197143000-197150400	Strong transcription	Primary B cells from cord blood	blood
49	chr1:197143000-197155000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:197143200-197165800	Weak transcription	Small Intestine	intestine

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