Variant report

Variant	rs72825861
Chromosome Location	chr2:96871339-96871340
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:5)
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	RFX5	chr2:96871263-96872077	K562	blood:	n/a	chr2:96871677-96871692
2	POLR2A	chr2:96870648-96872157	K562	blood:	n/a	n/a
3	MYC	chr2:96871012-96871376	MCF10A-Er-Src	breast:	n/a	n/a
4	WRNIP1	chr2:96871154-96871362	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:96871198-96871398	GM12878	blood:	n/a	n/a
6	MAZ	chr2:96871208-96871358	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:96870976-96872242	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:96871065-96871384	HepG2	liver:	n/a	n/a
9	USF2	chr2:96871241-96871349	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:96870579-96871388	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr2:96870906-96872198	HepG2	liver:	n/a	n/a
12	MYC	chr2:96870731-96871927	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr2:96870820-96871347	MCF10A-Er-Src	breast:	n/a	n/a
14	RCOR1	chr2:96871197-96871397	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:96856180..96863246-chr2:96870668..96875373,10	MCF-7	breast:
2	chr2:96869427..96871846-chr2:96971541..96973086,2	K562	blood:
3	chr2:96868913..96876440-chr2:96928017..96934530,23	K562	blood:
4	chr2:96870309..96876262-chr2:96928720..96933891,16	MCF-7	breast:
5	chr2:96803078..96804827-chr2:96870738..96872639,2	K562	blood:

No data

Variant related genes	Relation type
STARD7-AS1	TF binding region
ENSG00000135956	Chromatin interaction
ENSG00000188886	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000144021	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11539221	0.88[EUR][1000 genomes]
rs11539223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119627	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17419569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs29000576	0.96[EUR][1000 genomes]
rs55908923	0.96[EUR][1000 genomes]
rs56289221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67677651	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72825836	0.96[EUR][1000 genomes]
rs72825837	0.96[EUR][1000 genomes]
rs72825845	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72825869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937811	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9333567	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96849600-96872600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:96859000-96873200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:96861000-96871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:96861400-96872200	Weak transcription	Placenta	Placenta
5	chr2:96861400-96872800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:96861400-96872800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:96864200-96871800	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:96864200-96872600	Enhancers	Brain Substantia Nigra	brain
9	chr2:96866200-96872800	Enhancers	Adipose Nuclei	Adipose
10	chr2:96866400-96872800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:96867000-96872600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:96867000-96873000	Enhancers	Small Intestine	intestine
13	chr2:96867600-96872800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:96867800-96871800	Enhancers	Fetal Intestine Large	intestine
15	chr2:96867800-96873000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:96868800-96872800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:96869200-96871600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:96869400-96871600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:96869400-96871600	Enhancers	Aorta	Aorta
20	chr2:96869400-96871800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:96869400-96872000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:96869400-96872800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:96869600-96872600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:96869600-96872800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:96869600-96872800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:96869600-96872800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:96869800-96872800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:96869800-96873000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:96870000-96872800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:96870000-96873000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr2:96870000-96873200	Weak transcription	Gastric	stomach
32	chr2:96870000-96875400	Active TSS	Psoas Muscle	Psoas
33	chr2:96870200-96871800	Enhancers	Fetal Intestine Small	intestine
34	chr2:96870200-96872000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr2:96870200-96872200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr2:96870200-96873000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:96870200-96873000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:96870400-96871400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:96870400-96871800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:96870400-96871800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:96870400-96872200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:96870400-96872200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr2:96870400-96872200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:96870400-96872200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:96870400-96872200	Flanking Active TSS	HUVEC	blood vessel
46	chr2:96870400-96872400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:96870400-96872800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:96870400-96872800	Weak transcription	Lung	lung
49	chr2:96870400-96873000	Weak transcription	Esophagus	oesophagus
50	chr2:96870400-96873000	Weak transcription	Pancreas	Pancrea

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