Variant report

Variant	rs533413850
Chromosome Location	chr1:161162470-161162471
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	CTCF	chr1:161162360-161162510	GM12801	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
2	RCOR1	chr1:161162314-161162646	K562	blood:	n/a	n/a
3	CTCF	chr1:161162400-161162550	GM12875	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
4	CTCF	chr1:161162400-161162550	RPTEC	kidney:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
5	SMC3	chr1:161162256-161162752	Hela-S3	cervix:	n/a	chr1:161162468-161162482
6	RAD21	chr1:161162253-161162650	H1-hESC	embryonic stem cell:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
7	CTCF	chr1:161162320-161162470	HCM	heart:	n/a	n/a
8	CTCF	chr1:161162244-161162712	IMR90	lung:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
9	CTCF	chr1:161162380-161162530	GM12866	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
10	CTCF	chr1:161162400-161162550	HAc	cerebellar:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
11	CTCF	chr1:161162420-161162570	A549	lung:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
12	CTCF	chr1:161161790-161162896	SK-N-SH	brain:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
13	RAD21	chr1:161162234-161162683	ECC-1	luminal epithelium:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
14	CTCF	chr1:161162380-161162530	AG09319	gingival:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
15	CTCF	chr1:161162319-161162616	GM12878	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
16	SPI1	chr1:161162273-161162523	GM12891	blood:	n/a	n/a
17	UBTF	chr1:161162374-161162636	K562	blood:	n/a	n/a
18	CTCF	chr1:161162327-161162635	GM19240	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
19	CTCF	chr1:161162380-161162530	AG04449	skin:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
20	CTCF	chr1:161162400-161162550	GM12874	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
21	CTCF	chr1:161162400-161162550	MCF-7	breast:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
22	CTCF	chr1:161162344-161162588	ProgFib	skin:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
23	RAD21	chr1:161162306-161162748	MCF-7	breast:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
24	RAD21	chr1:161162270-161162657	K562	blood:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
25	SPI1	chr1:161162290-161162490	K562	blood:	n/a	n/a
26	CTCF	chr1:161162332-161162588	Fibrobl	skin:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
27	CTCF	chr1:161162400-161162550	GM12867	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
28	CTCF	chr1:161162380-161162530	HRPEpiC	eye:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
29	CTCF	chr1:161162420-161162570	GM12872	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
30	RAD21	chr1:161162284-161162735	SK-N-SH_RA	brain:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
31	TBP	chr1:161162376-161162571	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr1:161162400-161162550	NHEK	skin:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
33	CTCF	chr1:161162400-161162550	HRPEpiC	eye:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
34	CTCF	chr1:161162326-161162604	MCF-7	breast:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
35	CTCF	chr1:161162380-161162530	Hela-S3	cervix:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
36	CTCF	chr1:161162380-161162530	Caco-2	colon:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
37	RAD21	chr1:161162265-161162712	GM12878	blood:	n/a	chr1:161162467-161162486 chr1:161162470-161162483 chr1:161162472-161162484
38	CTCF	chr1:161162310-161162549	SK-N-SH_RA	brain:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
39	MAZ	chr1:161162281-161162659	K562	blood:	n/a	n/a
40	YY1	chr1:161162302-161162583	GM12878	blood:	n/a	n/a
41	CTCF	chr1:161162338-161162607	GM13977	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
42	CTCF	chr1:161162400-161162550	HBMEC	blood vessel:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
43	CTCF	chr1:161162257-161162647	K562	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
44	CTCF	chr1:161162380-161162530	K562	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
45	CTCF	chr1:161162305-161162627	HepG2	liver:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
46	CTCF	chr1:161162400-161162550	GM12866	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
47	CTCF	chr1:161162380-161162530	HEEpiC	esophagus:	n/a	chr1:161162467-161162483 chr1:161162466-161162484
48	SMC3	chr1:161162296-161162673	K562	blood:	n/a	chr1:161162468-161162482
49	USF2	chr1:161162370-161162643	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr1:161162380-161162530	HL-60	blood:	n/a	chr1:161162467-161162483 chr1:161162466-161162484

No.	Distal block	Cell Line	Cell type
1	chr1:161157327..161160707-chr1:161160939..161164830,4	K562	blood:
2	chr1:161160904..161162773-chr1:161163879..161166104,2	MCF-7	breast:
3	chr1:161161386..161164009-chr1:161188467..161191186,2	MCF-7	breast:
4	chr1:161086324..161088936-chr1:161160817..161162569,2	K562	blood:
5	chr1:161162284..161164231-chr1:161350285..161353157,2	MCF-7	breast:
6	chr1:161162448..161162950-chr1:161179543..161180226,2	K562	blood:
7	chr1:161162435..161162964-chr1:161195082..161195632,2	K562	blood:
8	chr1:161152355..161156919-chr1:161160220..161163172,6	K562	blood:
9	chr1:161162124..161162789-chr1:161260973..161261767,2	MCF-7	breast:
10	chr1:161162295..161163089-chr1:161179309..161179869,2	MCF-7	breast:
11	chr1:161159866..161163748-chr1:161166740..161171576,6	MCF-7	breast:
12	chr1:161160858..161163554-chr1:161335884..161337971,2	MCF-7	breast:
13	chr1:161161843..161164361-chr1:161165449..161168112,2	MCF-7	breast:
14	chr1:161162222..161163044-chr1:161179334..161180230,2	MCF-7	breast:
15	chr1:161162025..161162580-chr1:161351852..161352505,3	K562	blood:
16	chr1:161162001..161162966-chr1:161195045..161195904,3	MCF-7	breast:
17	chr1:161160427..161162959-chr1:161172142..161173737,2	MCF-7	breast:
18	chr1:161159836..161162629-chr1:161171704..161173335,2	MCF-7	breast:
19	chr1:161161591..161163343-chr1:161282376..161284544,2	K562	blood:

Variant related genes	Relation type
NDUFS2	TF binding region
ENSG00000268387	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000235477	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000188931	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv32799	chr1:161161838-161171520	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161147800-161167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:161148200-161162600	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:161148200-161167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:161148400-161165000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:161153200-161166000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:161153200-161167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:161156000-161167600	Weak transcription	Fetal Heart	heart
8	chr1:161156200-161163000	Weak transcription	Thymus	Thymus
9	chr1:161156200-161163200	Weak transcription	NHDF-Ad	bronchial
10	chr1:161156200-161166200	Weak transcription	Fetal Lung	lung
11	chr1:161156400-161163600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:161156400-161166000	Weak transcription	Esophagus	oesophagus
13	chr1:161156600-161165200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:161157400-161162600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:161157400-161162600	Weak transcription	HepG2	liver
16	chr1:161157600-161162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:161157600-161164400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:161157600-161165000	Weak transcription	Right Atrium	heart
19	chr1:161157600-161167600	Weak transcription	Small Intestine	intestine
20	chr1:161158800-161166000	Weak transcription	Pancreas	Pancrea
21	chr1:161160200-161163000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:161160200-161163800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:161160200-161167000	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:161160200-161167400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:161160400-161162600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:161160400-161162600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:161160400-161162600	Strong transcription	Osteobl	bone
28	chr1:161160400-161164000	Strong transcription	NHLF	lung
29	chr1:161160400-161164400	Genic enhancers	Brain Hippocampus Middle	brain
30	chr1:161160400-161165400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:161160600-161162600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:161160600-161163000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr1:161160600-161164000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:161160600-161165800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:161160800-161166800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:161161000-161162600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:161161000-161162800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:161161000-161163400	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr1:161161000-161165400	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr1:161161000-161166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:161161200-161162600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:161161200-161162600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:161161200-161162600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:161161200-161162600	Weak transcription	Placenta	Placenta
45	chr1:161161400-161162800	Strong transcription	Right Ventricle	heart
46	chr1:161161400-161162800	Strong transcription	HSMM	muscle
47	chr1:161161400-161163000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:161161400-161163000	Weak transcription	Lung	lung
49	chr1:161161400-161165200	Genic enhancers	Brain Anterior Caudate	brain
50	chr1:161161600-161162600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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