Variant report

Variant	rs7017138
Chromosome Location	chr8:125648925-125648926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125640733..125644991-chr8:125647355..125650506,7	K562	blood:
2	chr8:125648425..125652159-chr8:125652603..125655556,5	K562	blood:
3	chr8:125645660..125649648-chr8:125667642..125669195,3	K562	blood:
4	chr8:125648736..125650497-chr8:125657454..125659913,2	MCF-7	breast:
5	chr8:125648801..125651687-chr8:125651691..125654653,2	MCF-7	breast:
6	chr8:125647571..125649356-chr8:125735665..125737482,2	MCF-7	breast:
7	chr8:125647705..125651624-chr8:125656720..125658741,4	K562	blood:
8	chr8:125646525..125649000-chr8:125654557..125656229,2	K562	blood:
9	chr8:125644080..125646951-chr8:125648731..125650374,2	MCF-7	breast:
10	chr8:125647545..125651264-chr8:125826076..125829178,3	K562	blood:
11	chr8:125647615..125650010-chr8:125670144..125672819,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10094360	0.96[YRI][hapmap];0.95[AFR][1000 genomes]
rs10105407	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11777231	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778543	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11780949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11785482	0.85[JPT][hapmap]
rs4007936	0.93[JPT][hapmap]
rs4311642	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs4510845	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871525	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871527	0.93[JPT][hapmap]
rs56995505	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62530686	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62530688	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62530689	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62530690	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6981365	0.89[ASW][hapmap];0.97[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes]
rs6992199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827042	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835359	0.89[MEX][hapmap]
rs7840832	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7843950	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv275526	chr8:125640964-125650653	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7017138	MTSS1	cis	lymphoblastoid	seeQTL
rs7017138	ZNF491	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
2	chr8:125637200-125651000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:125639600-125649800	Weak transcription	Fetal Brain Female	brain
4	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:125642800-125653600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:125643000-125652200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:125643000-125653800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:125643400-125656200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:125643800-125656000	Weak transcription	HMEC	breast
10	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:125644000-125649000	Weak transcription	Stomach Mucosa	stomach
12	chr8:125644200-125649000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:125644200-125649000	Weak transcription	Brain Germinal Matrix	brain
14	chr8:125644200-125649000	Weak transcription	Esophagus	oesophagus
15	chr8:125644200-125653800	Weak transcription	Hela-S3	cervix
16	chr8:125644400-125649000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:125644400-125649200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:125644400-125654600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:125644600-125649200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
21	chr8:125645800-125657600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:125646000-125649200	Enhancers	Thymus	Thymus
23	chr8:125646000-125656400	Enhancers	Primary B cells from cord blood	blood
24	chr8:125646400-125657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:125646400-125657800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr8:125646600-125651200	Enhancers	Primary T cells from cord blood	blood
27	chr8:125646600-125651200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr8:125646600-125651200	Enhancers	Liver	Liver
29	chr8:125646600-125651200	Enhancers	Dnd41	blood
30	chr8:125646600-125656800	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:125646600-125658000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:125646600-125658600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:125646600-125659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:125646800-125649600	Enhancers	Fetal Intestine Small	intestine
35	chr8:125646800-125650200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:125646800-125658000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:125647000-125649200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:125647000-125649800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:125647000-125650000	Enhancers	Lung	lung
40	chr8:125647000-125650400	Enhancers	HUVEC	blood vessel
41	chr8:125647000-125651000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:125647000-125651000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:125647000-125651200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:125647000-125651200	Enhancers	Fetal Heart	heart
45	chr8:125647000-125651200	Enhancers	Spleen	Spleen
46	chr8:125647000-125651200	Enhancers	HepG2	liver
47	chr8:125647000-125651600	Enhancers	Fetal Muscle Leg	muscle
48	chr8:125647000-125654400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:125647000-125655400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:125647000-125657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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