Variant report

Variant	rs7504603
Chromosome Location	chr18:9155527-9155528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9139215..9141477-chr18:9155271..9156901,2	K562	blood:
2	chr18:9114265..9115952-chr18:9154606..9156860,2	K562	blood:
3	chr18:9137052..9139682-chr18:9153888..9155527,2	MCF-7	breast:
4	chr18:9150679..9153194-chr18:9154073..9157031,2	K562	blood:

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction
ENSG00000263847	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11660603	0.91[CHB][hapmap]
rs11661711	0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12607307	0.93[EUR][1000 genomes]
rs12958093	0.94[CEU][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs1472944	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17413793	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs1893198	0.81[JPT][hapmap]
rs2155707	0.85[CEU][hapmap]
rs4078337	0.95[CEU][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4131992	0.95[CEU][hapmap];0.85[JPT][hapmap]
rs4148965	0.87[CHB][hapmap]
rs4148966	0.90[ASN][1000 genomes]
rs4148967	0.95[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4603624	0.85[CEU][hapmap]
rs4797356	0.95[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4798771	0.87[CHB][hapmap]
rs4798772	0.91[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4798776	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4798778	0.90[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4798786	0.81[JPT][hapmap]
rs4798791	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs56046470	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6417048	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7228251	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs7504137	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7505120	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7506291	0.85[JPT][hapmap]
rs8087306	0.81[JPT][hapmap]
rs8089693	0.81[JPT][hapmap]
rs894755	0.85[CEU][hapmap]
rs9652952	0.94[JPT][hapmap]
rs977581	0.95[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9944905	0.84[AMR][1000 genomes]
rs9945360	0.95[CEU][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9946468	0.90[CEU][hapmap];0.96[YRI][hapmap]
rs9947027	0.95[CEU][hapmap];0.92[CHB][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9948560	0.87[CEU][hapmap]
rs9952006	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9959998	0.84[AMR][1000 genomes]
rs9960129	0.90[CEU][hapmap]
rs9966631	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9138200-9162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:9138600-9156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:9140000-9162000	Weak transcription	Thymus	Thymus
4	chr18:9140000-9163000	Weak transcription	Fetal Intestine Large	intestine
5	chr18:9140800-9160200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr18:9141600-9161000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr18:9142400-9174000	Weak transcription	HSMMtube	muscle
8	chr18:9143800-9159000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:9145600-9156200	Weak transcription	HMEC	breast
10	chr18:9146600-9174000	Weak transcription	Esophagus	oesophagus
11	chr18:9147800-9163000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:9147800-9165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:9148000-9159400	Weak transcription	Fetal Stomach	stomach
14	chr18:9148000-9159800	Weak transcription	Fetal Intestine Small	intestine
15	chr18:9148000-9160800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:9148000-9161800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:9148000-9171400	Weak transcription	NHDF-Ad	bronchial
18	chr18:9148000-9173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:9148200-9159400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr18:9148200-9161800	Weak transcription	Fetal Kidney	kidney
21	chr18:9148200-9162800	Weak transcription	Dnd41	blood
22	chr18:9148200-9162800	Weak transcription	Hela-S3	cervix
23	chr18:9148200-9164000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr18:9148200-9173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:9148400-9155800	Weak transcription	Brain Substantia Nigra	brain
26	chr18:9148400-9156400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr18:9148800-9158000	Weak transcription	Brain Anterior Caudate	brain
29	chr18:9149000-9155600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr18:9149200-9160600	Weak transcription	Brain Angular Gyrus	brain
31	chr18:9149400-9157000	Weak transcription	K562	blood
32	chr18:9149800-9158800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr18:9150400-9161600	Weak transcription	HSMM	muscle
34	chr18:9150400-9173200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:9151000-9155800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr18:9151000-9159200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr18:9151400-9159000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr18:9151400-9173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:9151600-9160600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr18:9151800-9174000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr18:9152200-9162000	Weak transcription	Fetal Muscle Leg	muscle
42	chr18:9152400-9160400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr18:9152800-9160400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr18:9153200-9158400	Weak transcription	Small Intestine	intestine
45	chr18:9153200-9161400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr18:9153400-9158000	Weak transcription	Stomach Mucosa	stomach
47	chr18:9153400-9160400	Weak transcription	Brain Hippocampus Middle	brain
48	chr18:9153600-9157000	Weak transcription	HepG2	liver
49	chr18:9153600-9157200	Weak transcription	Primary T cells from cord blood	blood
50	chr18:9153600-9158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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