Variant report

Variant	rs73004391
Chromosome Location	chr1:149855061-149855062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr1:149854894-149860797	IMR90	lung:	n/a	n/a
2	POLR2A	chr1:149854701-149855065	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:149855058-149855881	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr1:149855027-149855831	IMR90	lung:	n/a	n/a
5	SIN3AK20	chr1:149854723-149856194	K562	blood:	n/a	n/a
6	POLR2A	chr1:149854930-149863498	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr1:149854854-149860655	K562	blood:	n/a	chr1:149859834-149859843
8	PML	chr1:149854976-149860749	K562	blood:	n/a	n/a
9	POLR2A	chr1:149853202-149861769	K562	blood:	n/a	n/a
10	CCNT2	chr1:149854928-149855672	K562	blood:	n/a	n/a
11	EGR1	chr1:149855035-149855588	K562	blood:	n/a	n/a
12	POLR2A	chr1:149854904-149860374	K562	blood:	n/a	n/a
13	POLR2A	chr1:149852655-149863016	K562	blood:	n/a	n/a
14	CEBPD	chr1:149854797-149857895	K562	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149813928..149823076-chr1:149854513..149862208,33	K562	blood:
2	chr1:149813687..149823244-chr1:149851297..149861525,76	MCF-7	breast:
3	chr1:149854948..149862391-chr1:150036900..150043965,32	MCF-7	breast:
4	chr1:149854988..149857617-chr17:41463714..41465373,2	MCF-7	breast:
5	chr1:149855028..149856935-chr19:27731051..27732710,2	MCF-7	breast:
6	chr1:149853005..149861438-chr1:149978765..149991065,34	MCF-7	breast:
7	chr1:149854015..149856370-chr1:150208548..150210242,2	K562	blood:
8	chr1:149854493..149857543-chr1:150205642..150209328,3	MCF-7	breast:
9	chr1:149854540..149863300-chr1:149979575..149985253,19	K562	blood:
10	chr1:149852946..149855722-chr8:144717602..144719640,2	MCF-7	breast:
11	chr1:149853460..149855808-chr1:150158235..150161131,2	K562	blood:
12	chr1:149813697..149823354-chr1:149851773..149862006,115	MCF-7	breast:
13	chr1:149853918..149856291-chr1:150026219..150029011,2	K562	blood:
14	chr1:149813771..149823366-chr1:149853740..149862208,36	K562	blood:
15	chr1:149854324..149859746-chr20:45984655..45988969,6	MCF-7	breast:
16	chr1:149854077..149861961-chr1:150131511..150145996,30	MCF-7	breast:
17	chr1:149782512..149785665-chr1:149854381..149857469,5	MCF-7	breast:
18	chr1:149854392..149861957-chr1:150131544..150142194,21	K562	blood:
19	chr1:149854454..149857299-chr21:43097372..43099990,2	MCF-7	breast:
20	chr1:149854142..149859760-chr1:150182757..150186625,7	MCF-7	breast:

No data

Variant related genes	Relation type
BOLA1	TF binding region
HIST2H2AC	TF binding region
ENSG00000183558	Chromatin interaction
ENSG00000227702	Chromatin interaction
ENSG00000266187	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000183309	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000183598	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000242663	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000203814	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57594441	1.00[AMR][1000 genomes]
rs60525620	1.00[AMR][1000 genomes]
rs60546338	1.00[AMR][1000 genomes]
rs73006309	1.00[AMR][1000 genomes]
rs73006315	1.00[AMR][1000 genomes]
rs73010199	1.00[AMR][1000 genomes]
rs73010202	1.00[AMR][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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149846400-149855200	Weak transcription	Fetal Stomach	stomach
2	chr1:149849200-149855800	Weak transcription	Right Atrium	heart
3	chr1:149849600-149855200	Weak transcription	Placenta	Placenta
4	chr1:149849600-149855200	Weak transcription	Left Ventricle	heart
5	chr1:149849600-149855200	Weak transcription	Right Ventricle	heart
6	chr1:149849600-149855200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:149849800-149855200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:149851200-149855200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:149851600-149855200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:149851600-149855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:149851600-149855200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:149851800-149855800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:149852000-149855800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:149852200-149855600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:149853000-149855400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:149853400-149855600	Enhancers	Fetal Thymus	thymus
17	chr1:149853400-149856000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:149853600-149856200	Weak transcription	Pancreas	Pancrea
19	chr1:149853800-149855200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:149853800-149855200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:149853800-149855600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:149854000-149855200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:149854000-149855200	Weak transcription	Brain Germinal Matrix	brain
24	chr1:149854000-149855200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:149854000-149856000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:149854000-149856800	Weak transcription	Esophagus	oesophagus
27	chr1:149854200-149855200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:149854200-149855200	Weak transcription	HepG2	liver
29	chr1:149854200-149855400	Weak transcription	A549	lung
30	chr1:149854400-149855200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:149854400-149855600	Enhancers	Primary B cells from cord blood	blood
32	chr1:149854600-149855200	Enhancers	Thymus	Thymus
33	chr1:149854800-149855600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:149854800-149856000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:149854800-149856000	Enhancers	Psoas Muscle	Psoas
36	chr1:149854800-149856000	Weak transcription	NH-A	brain
37	chr1:149855000-149855200	Enhancers	Primary T cells from cord blood	blood
38	chr1:149855000-149855200	Active TSS	GM12878-XiMat	blood
39	chr1:149855000-149855400	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:149855000-149855600	Enhancers	Fetal Lung	lung
41	chr1:149855000-149855600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:149855000-149855800	Enhancers	Fetal Heart	heart
43	chr1:149855000-149856000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr1:149855000-149856000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:149855000-149856000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:149855000-149856000	Enhancers	Liver	Liver
47	chr1:149855000-149856000	Flanking Active TSS	K562	blood
48	chr1:149855000-149856200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:149855000-149857400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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