Variant report

Variant	rs61732647
Chromosome Location	chr1:151237908-151237909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr1:151237858-151238339	HepG2	liver:	n/a	chr1:151238093-151238109 chr1:151238111-151238119 chr1:151238109-151238124 chr1:151238110-151238124 chr1:151238110-151238123 chr1:151238111-151238123 chr1:151238110-151238123 chr1:151238097-151238104
2	FOXA1	chr1:151237777-151238220	HepG2	liver:	n/a	n/a
3	FOXA2	chr1:151237804-151238232	HepG2	liver:	n/a	n/a
4	HNF4A	chr1:151237902-151238323	HepG2	liver:	n/a	chr1:151238093-151238109 chr1:151238111-151238119 chr1:151238109-151238124 chr1:151238110-151238124 chr1:151238110-151238123 chr1:151238111-151238123 chr1:151238110-151238123 chr1:151238097-151238104
5	SP1	chr1:151237876-151238329	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151227176..151229508-chr1:151236755..151239128,4	MCF-7	breast:
2	chr1:151161317..151163856-chr1:151235890..151237991,2	MCF-7	breast:
3	chr1:151236628..151240261-chr1:151252418..151256646,5	K562	blood:
4	chr1:151231517..151234313-chr1:151236642..151238843,2	K562	blood:
5	chr1:151234999..151238320-chr1:151251915..151256083,5	MCF-7	breast:

Variant related genes	Relation type
PSMD4	TF binding region
ENSG00000232671	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000159352	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35954676	0.84[AFR][1000 genomes]
rs41299615	0.84[AFR][1000 genomes]
rs61740560	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 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	chr1:151228400-151238200	Weak transcription	Small Intestine	intestine
2	chr1:151228400-151238400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:151228400-151244000	Weak transcription	Right Atrium	heart
4	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
5	chr1:151228600-151238000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:151228600-151244400	Weak transcription	Fetal Heart	heart
7	chr1:151230600-151244400	Strong transcription	Fetal Stomach	stomach
8	chr1:151231200-151243200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:151231800-151238200	Weak transcription	Psoas Muscle	Psoas
10	chr1:151231800-151243400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:151232800-151244400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:151232800-151244400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:151233800-151242800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:151233800-151243200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:151233800-151244400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:151234000-151240600	Strong transcription	Dnd41	blood
17	chr1:151234000-151240600	Strong transcription	HMEC	breast
18	chr1:151234000-151240800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:151234000-151240800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:151234000-151241800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:151234000-151243200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:151234000-151244400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:151234000-151245000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:151234200-151240000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:151234200-151240200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:151234200-151241400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:151234200-151243200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:151234200-151243200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:151234200-151244000	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:151234200-151244200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:151234200-151244200	Strong transcription	Placenta	Placenta
32	chr1:151234200-151244400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr1:151234200-151244600	Strong transcription	Fetal Thymus	thymus
34	chr1:151234200-151245000	Strong transcription	Fetal Intestine Small	intestine
35	chr1:151234400-151240600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:151234400-151240600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:151234400-151240800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:151234400-151241400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:151234400-151241400	Strong transcription	Thymus	Thymus
40	chr1:151234400-151241600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:151234400-151241800	Strong transcription	Brain Germinal Matrix	brain
42	chr1:151234400-151243000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:151234400-151243600	Strong transcription	Adipose Nuclei	Adipose
44	chr1:151234600-151239600	Strong transcription	NHEK	skin
45	chr1:151234600-151239800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:151234600-151239800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:151234600-151240000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:151234600-151240200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:151234600-151240400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr1:151234600-151240400	Strong transcription	Hela-S3	cervix

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