Variant report

Variant	rs5762935
Chromosome Location	chr22:29381152-29381153
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RXRA	chr22:29380875-29381184	HepG2	liver:	n/a	chr22:29381014-29381027 chr22:29381010-29381030 chr22:29381014-29381027 chr22:29381014-29381028 chr22:29381014-29381027
2	POLR2A	chr22:29381001-29381339	HepG2	liver:	n/a	n/a
3	EP300	chr22:29380758-29381236	HepG2	liver:	n/a	n/a
4	NR2F2	chr22:29380584-29381152	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29379528..29381161-chr22:29385924..29388369,2	MCF-7	breast:
2	chr22:29374740..29376458-chr22:29379657..29381475,2	K562	blood:
3	chr22:29381053..29382745-chr22:29384377..29385897,2	K562	blood:
4	chr22:29380991..29382745-chr22:29384341..29385877,2	K562	blood:
5	chr22:29374143..29375921-chr22:29380151..29381868,2	MCF-7	breast:

Variant related genes	Relation type
ZNRF3	TF binding region

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs132541	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs132547	0.87[CEU][hapmap]
rs132550	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs132551	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs132554	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs132556	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs16986909	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5762916	0.87[CEU][hapmap];0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs5762924	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997427	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs713892	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs7290117	1.00[JPT][hapmap]
rs739197	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs8139717	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29373400-29381400	Weak transcription	Fetal Stomach	stomach
3	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
4	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr22:29374200-29381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr22:29374200-29383000	Weak transcription	Ovary	ovary
7	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:29374600-29381400	Enhancers	Liver	Liver
9	chr22:29374600-29385000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
12	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:29374800-29384400	Weak transcription	Osteobl	bone
14	chr22:29375200-29385200	Weak transcription	Brain Substantia Nigra	brain
15	chr22:29375600-29383000	Weak transcription	Left Ventricle	heart
16	chr22:29375600-29390800	Weak transcription	NHDF-Ad	bronchial
17	chr22:29375800-29381400	Weak transcription	Fetal Intestine Small	intestine
18	chr22:29375800-29383000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:29375800-29383200	Weak transcription	Brain Hippocampus Middle	brain
20	chr22:29375800-29383200	Weak transcription	Fetal Intestine Large	intestine
21	chr22:29375800-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29376600-29383600	Weak transcription	K562	blood
23	chr22:29376600-29384200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:29378000-29381200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr22:29378000-29383600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr22:29378000-29385400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:29378600-29381400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:29378600-29381800	Enhancers	HSMMtube	muscle
29	chr22:29378800-29381200	Enhancers	HMEC	breast
30	chr22:29378800-29381200	Enhancers	NHEK	skin
31	chr22:29378800-29381600	Enhancers	Fetal Muscle Leg	muscle
32	chr22:29378800-29384200	Weak transcription	A549	lung
33	chr22:29379000-29381200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:29379000-29381200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:29379000-29381200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr22:29379000-29381800	Enhancers	Placenta	Placenta
37	chr22:29379000-29383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr22:29379000-29383400	Enhancers	Adipose Nuclei	Adipose
39	chr22:29379200-29381600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:29379200-29382200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:29379400-29381200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr22:29379400-29381200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr22:29379600-29381200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:29379600-29388400	Weak transcription	Psoas Muscle	Psoas
45	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
46	chr22:29379800-29381200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr22:29379800-29381400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:29379800-29382200	Weak transcription	Fetal Kidney	kidney
49	chr22:29379800-29382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr22:29379800-29383000	Weak transcription	H9 Cell Line	embryonic stem cell

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