Variant report

Variant	rs7528369
Chromosome Location	chr1:212330730-212330731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212325199..212329163-chr1:212330168..212333367,6	K562	blood:
2	chr1:212325464..212333414-chr1:212456079..212461375,10	K562	blood:
3	chr1:212324540..212327607-chr1:212329235..212333367,6	K562	blood:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11119854	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119855	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119857	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119859	0.91[CHB][hapmap];0.92[CHD][hapmap]
rs11119861	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11579154	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11802742	0.81[AFR][1000 genomes]
rs17018585	0.93[YRI][hapmap]
rs17018586	0.93[YRI][hapmap]
rs17018589	0.94[YRI][hapmap]
rs2018722	0.83[YRI][hapmap]
rs35941522	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4951438	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951439	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61830778	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73078457	0.81[AFR][1000 genomes]
rs7545650	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs982091	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212314400-212332200	Weak transcription	Dnd41	blood
3	chr1:212320400-212332400	Weak transcription	Gastric	stomach
4	chr1:212321200-212330800	Weak transcription	Fetal Thymus	thymus
5	chr1:212323600-212335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:212324600-212340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:212326000-212332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:212326000-212332400	Weak transcription	Right Ventricle	heart
9	chr1:212326400-212332400	Weak transcription	Left Ventricle	heart
10	chr1:212326400-212335000	Weak transcription	Small Intestine	intestine
11	chr1:212326600-212332200	Weak transcription	Lung	lung
12	chr1:212327200-212332200	Weak transcription	Stomach Mucosa	stomach
13	chr1:212327200-212332400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:212327600-212332200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:212328400-212334600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:212330000-212331200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:212330200-212330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:212330200-212331000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:212330200-212331000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:212330200-212331000	Enhancers	Esophagus	oesophagus
21	chr1:212330200-212331000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:212330200-212331000	Enhancers	K562	blood
23	chr1:212330200-212331000	Enhancers	NHEK	skin
24	chr1:212330200-212331200	Enhancers	HMEC	breast
25	chr1:212330200-212332600	Enhancers	Thymus	Thymus
26	chr1:212330200-212333200	Enhancers	Liver	Liver
27	chr1:212330400-212332400	Weak transcription	Pancreas	Pancrea
28	chr1:212330600-212331000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:212330600-212331000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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