Variant report

Variant	rs72855750
Chromosome Location	chr1:9887107-9887108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:9886980-9887130	GM12873	blood:	n/a	n/a
2	CTCF	chr1:9886960-9887110	GM12873	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:9883311..9885843-chr1:9886647..9889506,4	K562	blood:
2	chr1:9884569..9887155-chr1:10002902..10004455,2	K562	blood:
3	chr1:9882501..9887964-chr1:9906388..9911794,10	MCF-7	breast:
4	chr1:9884699..9887504-chr1:9972988..9975946,2	K562	blood:
5	chr1:9885959..9887810-chr1:9888223..9890308,2	K562	blood:
6	chr1:9886240..9887970-chr1:9893394..9897363,3	K562	blood:

No data

Variant related genes	Relation type
CLSTN1	TF binding region
ENSG00000162441	Chromatin interaction
ENSG00000223989	Chromatin interaction
ENSG00000171603	Chromatin interaction
ENSG00000173614	Chromatin interaction
ENSG00000228150	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4988680	1.00[AMR][1000 genomes]
rs58978222	1.00[AMR][1000 genomes]
rs6664451	1.00[AMR][1000 genomes]
rs72855710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855712	1.00[AMR][1000 genomes]
rs72855717	1.00[AMR][1000 genomes]
rs72871215	1.00[AMR][1000 genomes]
rs72871220	1.00[AMR][1000 genomes]
rs72871223	1.00[AMR][1000 genomes]
rs72871231	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9884800-9887200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:9885000-9888000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:9885600-9894400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:9885800-9887600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:9885800-9887600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:9885800-9895200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:9885800-9895600	Weak transcription	Spleen	Spleen
8	chr1:9885800-9896200	Weak transcription	Psoas Muscle	Psoas
9	chr1:9886000-9887200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:9886000-9887200	Enhancers	HepG2	liver
11	chr1:9886000-9887800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:9886000-9887800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:9886000-9887800	Weak transcription	Placenta	Placenta
14	chr1:9886000-9887800	Weak transcription	Fetal Thymus	thymus
15	chr1:9886000-9891200	Weak transcription	Esophagus	oesophagus
16	chr1:9886000-9893800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:9886000-9895600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:9886000-9895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:9886000-9895600	Weak transcription	Right Atrium	heart
20	chr1:9886200-9887200	Enhancers	HMEC	breast
21	chr1:9886200-9887600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:9886200-9887800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:9886200-9887800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:9886200-9887800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:9886200-9887800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:9886200-9887800	Weak transcription	Osteobl	bone
27	chr1:9886200-9891200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:9886200-9895400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:9886400-9887600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:9886800-9887600	Enhancers	NHEK	skin
31	chr1:9887000-9887600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:9887000-9895400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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