Variant report

Variant	rs61697794
Chromosome Location	chr2:96902604-96902605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:96902604-96902732	HepG2	liver:	n/a	n/a
2	BHLHE40	chr2:96902584-96902928	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:96901484-96904297	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:96901752..96905157-chr2:96907799..96911905,3	K562	blood:
2	chr2:96873361..96875928-chr2:96899422..96903192,3	K562	blood:
3	chr2:96872989..96874577-chr2:96901038..96903322,2	MCF-7	breast:
4	chr2:96897214..96899419-chr2:96901457..96903696,2	K562	blood:
5	chr2:96899383..96903378-chr2:96907074..96910102,4	K562	blood:
6	chr2:96901597..96904057-chr2:96905195..96906999,2	K562	blood:
7	chr2:96896908..96898963-chr2:96900940..96903058,2	K562	blood:
8	chr2:96900140..96903093-chr2:96915677..96917725,2	K562	blood:

No data

Variant related genes	Relation type
STARD7-AS1	TF binding region
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11551400	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11886999	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016759	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57251156	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6725867	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6725872	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7579553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	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
8	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
9	nsv963665	chr2:96882253-96905611	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96875000-96906200	Weak transcription	Esophagus	oesophagus
2	chr2:96875200-96905000	Weak transcription	Aorta	Aorta
3	chr2:96875600-96907000	Weak transcription	Fetal Thymus	thymus
4	chr2:96875800-96905800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:96876000-96904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:96876000-96905800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:96876000-96906600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:96876000-96915200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:96876200-96903200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:96876200-96903600	Weak transcription	Gastric	stomach
11	chr2:96876200-96905200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:96876200-96906000	Weak transcription	Osteobl	bone
13	chr2:96876200-96906600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:96876200-96916000	Weak transcription	Dnd41	blood
15	chr2:96876200-96917800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:96877800-96916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:96879600-96903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:96879600-96903200	Weak transcription	Fetal Stomach	stomach
19	chr2:96886000-96905400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:96886000-96905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:96886400-96905000	Weak transcription	Fetal Heart	heart
22	chr2:96886800-96905000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:96887800-96905600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:96888000-96905400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:96889000-96903600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:96889600-96903400	Weak transcription	Primary T cells from cord blood	blood
27	chr2:96889600-96915800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:96891200-96916200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:96891400-96902800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:96891400-96916400	Weak transcription	HSMM	muscle
31	chr2:96891600-96905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:96891600-96906800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:96893200-96907600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:96896000-96906600	Weak transcription	Placenta	Placenta
35	chr2:96896000-96907800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:96896200-96903200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:96896200-96905000	Weak transcription	Psoas Muscle	Psoas
38	chr2:96896200-96917600	Weak transcription	Pancreas	Pancrea
39	chr2:96896400-96903200	Weak transcription	Lung	lung
40	chr2:96896400-96905000	Weak transcription	Right Ventricle	heart
41	chr2:96896400-96905400	Weak transcription	Right Atrium	heart
42	chr2:96896600-96911200	Weak transcription	K562	blood
43	chr2:96897400-96906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:96897400-96906000	Weak transcription	HMEC	breast
45	chr2:96897400-96906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:96899400-96905200	Weak transcription	Fetal Brain Male	brain
47	chr2:96899600-96918800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:96900000-96905200	Weak transcription	Spleen	Spleen
49	chr2:96900000-96907000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:96900000-96917800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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