Variant report

Variant	rs73014663
Chromosome Location	chr1:165742281-165742282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:165741808-165743132	K562	blood:	n/a	n/a
2	TBL1XR1	chr1:165741874-165743059	K562	blood:	n/a	n/a
3	CUX1	chr1:165742063-165742950	K562	blood:	n/a	n/a
4	MAFF	chr1:165742138-165742934	K562	blood:	n/a	n/a
5	GATA2	chr1:165742254-165743002	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr1:165742135-165742953	K562	blood:	n/a	n/a
7	ZNF384	chr1:165741800-165743152	K562	blood:	n/a	n/a
8	RCOR1	chr1:165742012-165743030	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165739737..165742477-chr1:165760188..165762822,2	K562	blood:
3	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
4	chr1:165740929..165742597-chr1:165810397..165813179,2	K562	blood:
5	chr1:165738416..165740684-chr1:165740883..165742513,2	MCF-7	breast:
6	chr1:165741744..165743826-chr1:165797591..165799642,2	MCF-7	breast:
7	chr1:165740871..165743661-chr1:198569825..198571369,2	K562	blood:

No data

Variant related genes	Relation type
TMCO1	TF binding region
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55720942	1.00[AFR][1000 genomes]
rs55767704	0.81[AFR][1000 genomes]
rs57827034	0.89[AFR][1000 genomes]
rs59334279	1.00[AFR][1000 genomes]
rs73014656	0.85[AFR][1000 genomes]
rs73014658	0.85[AFR][1000 genomes]
rs73014662	1.00[AFR][1000 genomes]
rs73014665	1.00[AFR][1000 genomes]
rs73014669	1.00[AFR][1000 genomes]
rs73016628	0.84[AFR][1000 genomes]
rs73016629	0.84[AFR][1000 genomes]
rs73016631	0.84[AFR][1000 genomes]
rs73016633	0.84[AFR][1000 genomes]
rs73016634	0.84[AFR][1000 genomes]
rs73016640	0.84[AFR][1000 genomes]
rs73016641	0.84[AFR][1000 genomes]
rs74121499	0.84[AFR][1000 genomes]

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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165738800-165744800	Weak transcription	Spleen	Spleen
2	chr1:165738800-165745200	Weak transcription	Gastric	stomach
3	chr1:165739000-165745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:165739000-165745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:165739200-165742600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:165739200-165742600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:165739200-165742800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:165739200-165742800	Weak transcription	Fetal Stomach	stomach
9	chr1:165739200-165743200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:165739200-165743200	Weak transcription	Placenta	Placenta
11	chr1:165739200-165743200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:165739200-165743200	Weak transcription	Thymus	Thymus
13	chr1:165739200-165744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:165739200-165744800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:165739200-165745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:165739200-165745400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:165739200-165745400	Weak transcription	Right Ventricle	heart
18	chr1:165739200-165745600	Weak transcription	Fetal Intestine Small	intestine
19	chr1:165739200-165745600	Weak transcription	Lung	lung
20	chr1:165739200-165746000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:165739400-165742600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:165739400-165742800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:165739400-165742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:165739400-165742800	Weak transcription	Brain Substantia Nigra	brain
25	chr1:165739400-165742800	Weak transcription	Esophagus	oesophagus
26	chr1:165739400-165743600	Weak transcription	Small Intestine	intestine
27	chr1:165739400-165744400	Weak transcription	Left Ventricle	heart
28	chr1:165739400-165744600	Weak transcription	Primary B cells from cord blood	blood
29	chr1:165739400-165744800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:165739400-165744800	Weak transcription	Fetal Lung	lung
31	chr1:165739400-165745600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:165739600-165742600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:165739600-165742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:165739600-165742600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:165739600-165742800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:165739600-165742800	Weak transcription	Adipose Nuclei	Adipose
37	chr1:165739600-165742800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:165739600-165743200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:165739600-165743400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:165739600-165743400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:165739600-165744200	Weak transcription	Aorta	Aorta
42	chr1:165739600-165744600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:165739600-165744600	Weak transcription	Fetal Brain Male	brain
44	chr1:165739600-165744800	Weak transcription	Primary T cells from cord blood	blood
45	chr1:165739600-165744800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:165739600-165745000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:165739600-165745400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:165739600-165745400	Weak transcription	Pancreas	Pancrea
49	chr1:165739600-165745600	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:165739800-165742600	Weak transcription	Placenta Amnion	Placenta Amnion

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