Variant report

Variant	rs61151739
Chromosome Location	chr1:168232380-168232381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168230394..168232532-chr1:168232563..168235542,3	K562	blood:
2	chr1:168230903..168232459-chr1:168232613..168234609,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206880	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12060580	1.00[EUR][1000 genomes]
rs12078900	1.00[EUR][1000 genomes]
rs12080143	1.00[EUR][1000 genomes]
rs12080866	1.00[EUR][1000 genomes]
rs12082173	1.00[EUR][1000 genomes]
rs12091379	1.00[EUR][1000 genomes]
rs56292766	1.00[EUR][1000 genomes]
rs57210996	1.00[EUR][1000 genomes]
rs57768763	1.00[EUR][1000 genomes]
rs60707311	1.00[EUR][1000 genomes]
rs73031924	0.82[AFR][1000 genomes]
rs73031958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73031973	0.91[AFR][1000 genomes]
rs73031987	1.00[EUR][1000 genomes]
rs73033959	0.91[AFR][1000 genomes]
rs73033962	0.91[AFR][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	nsv872526	chr1:168142489-168238710	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168219800-168235200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:168220200-168232800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:168220200-168234200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:168220200-168235000	Weak transcription	Colonic Mucosa	Colon
5	chr1:168220400-168235800	Weak transcription	Spleen	Spleen
6	chr1:168221800-168233800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:168225200-168233000	Weak transcription	Thymus	Thymus
8	chr1:168225200-168233200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:168225200-168234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:168225200-168234200	Weak transcription	Gastric	stomach
11	chr1:168225600-168235800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:168225600-168236000	Weak transcription	K562	blood
13	chr1:168225600-168236200	Weak transcription	A549	lung
14	chr1:168225600-168236800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:168225800-168232600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:168225800-168232800	Weak transcription	Dnd41	blood
17	chr1:168225800-168234800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:168226000-168233600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:168226200-168232400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:168226200-168233000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:168226200-168233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:168226200-168233600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:168226200-168233600	Weak transcription	Fetal Intestine Small	intestine
24	chr1:168226200-168233800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:168226200-168233800	Weak transcription	Fetal Stomach	stomach
26	chr1:168226200-168234000	Weak transcription	Esophagus	oesophagus
27	chr1:168226200-168235800	Weak transcription	Liver	Liver
28	chr1:168226200-168277400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:168226400-168242000	Weak transcription	Brain Substantia Nigra	brain
30	chr1:168226600-168233800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:168226800-168233600	Weak transcription	GM12878-XiMat	blood
32	chr1:168227400-168235600	Strong transcription	Primary B cells from cord blood	blood
33	chr1:168227600-168233000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:168228800-168233000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:168229800-168232400	Enhancers	Ovary	ovary
36	chr1:168230000-168233800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:168230200-168233000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:168230200-168234200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:168230600-168233400	Weak transcription	Lung	lung
40	chr1:168230600-168233600	Weak transcription	Fetal Lung	lung
41	chr1:168230600-168236200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:168230600-168236400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:168230800-168234600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:168231000-168236200	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:168231000-168248600	Weak transcription	Fetal Kidney	kidney
46	chr1:168231200-168233600	Weak transcription	Pancreas	Pancrea
47	chr1:168231200-168233800	Weak transcription	Adipose Nuclei	Adipose
48	chr1:168231200-168234200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:168231200-168235800	Weak transcription	Placenta	Placenta
50	chr1:168231200-168236600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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