Variant report

Variant	rs61803308
Chromosome Location	chr1:169072329-169072330
allele	C/T
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	MAX	chr1:169071723-169072358	A549	lung:	n/a	chr1:169072067-169072078 chr1:169071978-169071987 chr1:169072066-169072076
2	MAX	chr1:169071637-169072376	HepG2	liver:	n/a	chr1:169072067-169072078 chr1:169071978-169071987 chr1:169072066-169072076
3	NFIC	chr1:169071620-169072391	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr1:169071577-169072367	SK-N-SH	brain:	n/a	n/a
5	JUND	chr1:169071656-169072332	SK-N-SH	brain:	n/a	chr1:169071975-169071986 chr1:169071977-169071988 chr1:169071979-169071988 chr1:169071978-169071987 chr1:169071977-169071989 chr1:169071978-169071988
6	MAX	chr1:169071709-169072492	ECC-1	luminal epithelium:	n/a	chr1:169072067-169072078 chr1:169071978-169071987 chr1:169072066-169072076
7	E2F6	chr1:169071833-169072383	H1-hESC	embryonic stem cell:	n/a	chr1:169072197-169072206
8	MXI1	chr1:169071680-169072685	IMR90	lung:	n/a	n/a
9	MAX	chr1:169071701-169072341	SK-N-SH	brain:	n/a	chr1:169072067-169072078 chr1:169071978-169071987 chr1:169072066-169072076
10	TCF12	chr1:169071644-169072398	ECC-1	luminal epithelium:	n/a	n/a
11	MXI1	chr1:169071766-169072412	HepG2	liver:	n/a	n/a
12	KAP1	chr1:169071702-169072342	U2OS	brain:	n/a	chr1:169071977-169071986 chr1:169071980-169071989
13	NFIC	chr1:169071664-169072341	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr1:169071731-169072478	ECC-1	luminal epithelium:	n/a	chr1:169072067-169072078 chr1:169071978-169071987 chr1:169072066-169072076
15	MAX	chr1:169071764-169072407	HepG2	liver:	n/a	chr1:169072067-169072078 chr1:169071978-169071987 chr1:169072066-169072076
16	MAX	chr1:169071632-169072446	A549	lung:	n/a	chr1:169072067-169072078 chr1:169071978-169071987 chr1:169072066-169072076
17	TCF12	chr1:169071667-169072334	A549	lung:	n/a	n/a
18	SMARCB1	chr1:169071730-169073071	Hela-S3	cervix:	n/a	chr1:169071978-169071987 chr1:169071979-169071988
19	EP300	chr1:169071620-169072335	ECC-1	luminal epithelium:	n/a	chr1:169071978-169071987
20	ESRRA	chr1:169071901-169073461	GM12878	blood:	n/a	chr1:169073087-169073103 chr1:169073094-169073104 chr1:169073087-169073103 chr1:169072995-169073005 chr1:169073094-169073104 chr1:169073092-169073108 chr1:169072990-169073004 chr1:169072989-169073005 chr1:169072995-169073004 chr1:169072990-169073009 chr1:169073092-169073104 chr1:169072171-169072184
21	JUND	chr1:169071482-169072550	SK-N-SH	brain:	n/a	chr1:169071975-169071986 chr1:169071977-169071988 chr1:169071979-169071988 chr1:169071978-169071987 chr1:169071977-169071989 chr1:169071978-169071988

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169071736..169074539-chr1:169075134..169076733,2	K562	blood:
2	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000237707	TF binding region
ENSG00000203601	Chromatin interaction
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61803305	0.81[EUR][1000 genomes]
rs7523965	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169068000-169074600	Enhancers	Fetal Heart	heart
2	chr1:169068800-169072400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:169068800-169074600	Enhancers	Fetal Intestine Large	intestine
4	chr1:169068800-169074600	Enhancers	Fetal Intestine Small	intestine
5	chr1:169069000-169072400	Weak transcription	Fetal Kidney	kidney
6	chr1:169069000-169072800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:169069200-169074400	Enhancers	HepG2	liver
8	chr1:169070000-169073800	Weak transcription	Gastric	stomach
9	chr1:169070400-169072800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:169070400-169073000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:169070400-169073000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:169070600-169072400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:169070600-169072400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:169070600-169074400	Enhancers	A549	lung
15	chr1:169070600-169074600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:169070800-169073000	Enhancers	Left Ventricle	heart
17	chr1:169070800-169074200	Weak transcription	Liver	Liver
18	chr1:169071000-169072400	Active TSS	Colonic Mucosa	Colon
19	chr1:169071000-169072600	Enhancers	HSMMtube	muscle
20	chr1:169071000-169073000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:169071000-169074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:169071200-169072400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:169071200-169072400	Enhancers	Esophagus	oesophagus
24	chr1:169071200-169072600	Enhancers	NHLF	lung
25	chr1:169071200-169073000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:169071200-169073600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:169071400-169072400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:169071400-169072400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr1:169071400-169072800	Enhancers	HMEC	breast
30	chr1:169071400-169073000	Enhancers	Hela-S3	cervix
31	chr1:169071400-169073600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:169071600-169072400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:169071600-169072400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:169071600-169072400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:169071600-169072400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr1:169071600-169072400	Enhancers	Fetal Brain Female	brain
37	chr1:169071600-169072400	Enhancers	HSMM	muscle
38	chr1:169071600-169072400	Flanking Active TSS	NH-A	brain
39	chr1:169071600-169072400	Bivalent Enhancer	NHDF-Ad	bronchial
40	chr1:169071600-169072600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:169071600-169072600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:169071600-169072600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:169071600-169072600	Enhancers	Fetal Muscle Leg	muscle
44	chr1:169071600-169072800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:169071600-169072800	Enhancers	Brain Germinal Matrix	brain
46	chr1:169071600-169072800	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr1:169071600-169072800	Enhancers	Fetal Brain Male	brain
48	chr1:169071600-169073000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr1:169071600-169073000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr1:169071600-169073200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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