Variant report

Variant	rs62153013
Chromosome Location	chr2:96861613-96861614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:96861444-96861744	K562	blood:	n/a	n/a
2	CTCF	chr2:96861575-96861646	NHEK	skin:	n/a	n/a
3	FOXA1	chr2:96861160-96861665	HepG2	liver:	n/a	n/a
4	MAX	chr2:96861495-96861682	K562	blood:	n/a	n/a
5	CTCF	chr2:96861560-96861710	HepG2	liver:	n/a	n/a
6	CTCF	chr2:96861589-96861640	GM12891	blood:	n/a	n/a
7	CTCF	chr2:96861480-96861630	HBMEC	blood vessel:	n/a	n/a
8	RCOR1	chr2:96860802-96861828	IMR90	lung:	n/a	n/a
9	MAX	chr2:96861469-96861673	K562	blood:	n/a	n/a
10	TEAD4	chr2:96861014-96861631	HepG2	liver:	n/a	n/a
11	CTCF	chr2:96861599-96861633	MCF-7	breast:	n/a	n/a
12	POLR2A	chr2:96861482-96861855	GM12892	blood:	n/a	n/a
13	ARID3A	chr2:96861251-96861623	HepG2	liver:	n/a	n/a
14	CTCF	chr2:96861562-96861657	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:96861596-96861630	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:96861540-96861690	HepG2	liver:	n/a	n/a
17	CTCF	chr2:96861580-96861730	HCPEpiC	choroid plexus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96856180..96863246-chr2:96870668..96875373,10	MCF-7	breast:

No data

Variant related genes	Relation type
STARD7	TF binding region
ENSG00000204685	Chromatin interaction
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57414913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61341985	1.00[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	chr2:96849600-96862000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:96849600-96872600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:96849800-96861800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:96849800-96861800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:96849800-96862200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:96849800-96871000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:96850000-96861800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:96850000-96861800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:96850000-96862200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:96850000-96862400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:96850400-96862000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:96851000-96869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:96856800-96861800	Strong transcription	K562	blood
14	chr2:96859000-96861800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:96859000-96865800	Weak transcription	Esophagus	oesophagus
16	chr2:96859000-96866000	Weak transcription	Gastric	stomach
17	chr2:96859000-96866400	Weak transcription	Pancreas	Pancrea
18	chr2:96859000-96867800	Weak transcription	Spleen	Spleen
19	chr2:96859000-96870800	Weak transcription	Fetal Brain Male	brain
20	chr2:96859000-96870800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:96859000-96873200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:96859400-96862400	Enhancers	Fetal Heart	heart
23	chr2:96860200-96863800	Weak transcription	Small Intestine	intestine
24	chr2:96860200-96865800	Weak transcription	Ovary	ovary
25	chr2:96860200-96869400	Weak transcription	Aorta	Aorta
26	chr2:96860200-96871200	Weak transcription	Fetal Kidney	kidney
27	chr2:96860600-96862400	Genic enhancers	Fetal Intestine Small	intestine
28	chr2:96860600-96867800	Weak transcription	Fetal Lung	lung
29	chr2:96860800-96865400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:96861000-96861800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:96861000-96862000	Genic enhancers	Right Ventricle	heart
32	chr2:96861000-96862400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:96861000-96862400	Genic enhancers	Psoas Muscle	Psoas
34	chr2:96861000-96862400	Enhancers	Stomach Mucosa	stomach
35	chr2:96861000-96862600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:96861000-96865000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:96861000-96866000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:96861000-96866600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:96861000-96871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:96861200-96861800	Weak transcription	NHLF	lung
41	chr2:96861200-96862000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:96861200-96862000	Weak transcription	Liver	Liver
43	chr2:96861200-96862000	Weak transcription	Brain Substantia Nigra	brain
44	chr2:96861200-96862200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:96861200-96862200	Enhancers	Fetal Intestine Large	intestine
46	chr2:96861200-96862200	Enhancers	NH-A	brain
47	chr2:96861200-96862200	Enhancers	NHDF-Ad	bronchial
48	chr2:96861200-96862200	Enhancers	Osteobl	bone
49	chr2:96861200-96863400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:96861200-96863400	Weak transcription	HMEC	breast

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