Variant report

Variant	rs9947027
Chromosome Location	chr18:9151622-9151623
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9142518..9147121-chr18:9149107..9151760,6	K562	blood:
2	chr18:9138656..9141235-chr18:9149570..9151773,2	MCF-7	breast:
3	chr18:9143953..9145593-chr18:9149699..9152459,2	MCF-7	breast:
4	chr18:9134476..9136443-chr18:9150419..9152468,2	K562	blood:
5	chr18:9136650..9138896-chr18:9149233..9152038,3	MCF-7	breast:
6	chr18:9150679..9153194-chr18:9154073..9157031,2	K562	blood:
7	chr18:9136798..9138761-chr18:9150520..9152733,3	K562	blood:

Variant related genes	Relation type
ENSG00000101745	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	0.83[CHB][hapmap]
rs11661711	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12607307	0.92[EUR][1000 genomes]
rs12958093	1.00[CEU][hapmap]
rs1472944	0.94[EUR][1000 genomes]
rs17413793	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs1893198	0.91[JPT][hapmap]
rs2155707	0.92[CEU][hapmap];0.87[JPT][hapmap]
rs4078337	1.00[CEU][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes]
rs4131992	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs4148966	0.87[ASN][1000 genomes]
rs4148967	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4603624	0.92[CEU][hapmap];0.87[JPT][hapmap]
rs4797356	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4797361	0.86[JPT][hapmap]
rs4798772	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4798776	0.95[CEU][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4798778	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4798786	0.91[JPT][hapmap]
rs4798791	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs56046470	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6417048	0.90[EUR][1000 genomes]
rs6506649	0.86[JPT][hapmap]
rs7228251	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs7238828	1.00[YRI][hapmap]
rs7504137	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7504603	0.95[CEU][hapmap];0.92[CHB][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7505120	0.94[EUR][1000 genomes]
rs7506291	0.95[JPT][hapmap]
rs8087306	0.82[JPT][hapmap]
rs8089693	0.91[JPT][hapmap]
rs894755	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs977581	1.00[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs9945360	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9946176	1.00[YRI][hapmap]
rs9946468	0.96[CEU][hapmap];0.87[JPT][hapmap]
rs9946695	0.87[JPT][hapmap]
rs9948560	0.95[CEU][hapmap];0.84[JPT][hapmap]
rs9952006	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9960129	0.95[CEU][hapmap];0.86[JPT][hapmap]
rs9966631	0.97[EUR][1000 genomes];0.86[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:92 , 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	chr18:9138600-9154200	Weak transcription	Lung	lung
3	chr18:9138600-9156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:9140000-9162000	Weak transcription	Thymus	Thymus
5	chr18:9140000-9163000	Weak transcription	Fetal Intestine Large	intestine
6	chr18:9140200-9155400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:9140800-9160200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr18:9141600-9153000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr18:9141600-9161000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr18:9142400-9174000	Weak transcription	HSMMtube	muscle
11	chr18:9143800-9159000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:9145400-9154200	Weak transcription	Left Ventricle	heart
13	chr18:9145600-9156200	Weak transcription	HMEC	breast
14	chr18:9145800-9154000	Weak transcription	Spleen	Spleen
15	chr18:9146400-9154200	Weak transcription	Right Atrium	heart
16	chr18:9146600-9154200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:9146600-9174000	Weak transcription	Esophagus	oesophagus
18	chr18:9146800-9154200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:9147800-9154400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:9147800-9163000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:9147800-9165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:9148000-9151800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr18:9148000-9152000	Weak transcription	Brain Germinal Matrix	brain
24	chr18:9148000-9152400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr18:9148000-9152400	Weak transcription	A549	lung
26	chr18:9148000-9153000	Weak transcription	Brain Hippocampus Middle	brain
27	chr18:9148000-9159400	Weak transcription	Fetal Stomach	stomach
28	chr18:9148000-9159800	Weak transcription	Fetal Intestine Small	intestine
29	chr18:9148000-9160800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr18:9148000-9161800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr18:9148000-9171400	Weak transcription	NHDF-Ad	bronchial
32	chr18:9148000-9173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:9148200-9152200	Weak transcription	Stomach Mucosa	stomach
34	chr18:9148200-9153000	Weak transcription	HUVEC	blood vessel
35	chr18:9148200-9153400	Enhancers	Primary hematopoietic stem cells	blood
36	chr18:9148200-9159400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr18:9148200-9161800	Weak transcription	Fetal Kidney	kidney
38	chr18:9148200-9162800	Weak transcription	Dnd41	blood
39	chr18:9148200-9162800	Weak transcription	Hela-S3	cervix
40	chr18:9148200-9164000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:9148200-9173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:9148400-9153000	Weak transcription	Osteobl	bone
43	chr18:9148400-9154400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr18:9148400-9155800	Weak transcription	Brain Substantia Nigra	brain
45	chr18:9148400-9156400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr18:9148800-9152200	Enhancers	Colon Smooth Muscle	Colon
48	chr18:9148800-9158000	Weak transcription	Brain Anterior Caudate	brain
49	chr18:9149000-9154200	Weak transcription	Psoas Muscle	Psoas
50	chr18:9149000-9154400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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