Variant report

Variant	rs6981365
Chromosome Location	chr8:125646082-125646083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125645660..125649648-chr8:125667642..125669195,3	K562	blood:
2	chr8:125640852..125644024-chr8:125644604..125648826,4	MCF-7	breast:
3	chr8:125621598..125623778-chr8:125643368..125646296,3	K562	blood:
4	chr8:125627353..125628937-chr8:125644773..125647709,2	K562	blood:
5	chr8:125644080..125646951-chr8:125648731..125650374,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10094360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956192	0.86[CHB][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956193	0.86[JPT][hapmap]
rs4311642	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4510845	0.84[ASW][hapmap];0.88[LWK][hapmap];0.88[MKK][hapmap];0.88[AFR][1000 genomes]
rs4870916	0.81[MEX][hapmap]
rs6470257	0.84[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017138	0.89[ASW][hapmap];0.97[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes]
rs7819510	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7844234	0.93[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs919544	0.81[YRI][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6981365	MTSS1	cis	lymphoblastoid	seeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
2	chr8:125634800-125646600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:125637200-125651000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:125639200-125646600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:125639600-125649800	Weak transcription	Fetal Brain Female	brain
6	chr8:125640000-125646400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:125640800-125646800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:125640800-125647000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:125641000-125647600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:125641200-125646600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:125641400-125646600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:125642000-125646600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:125642600-125648200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:125642800-125647000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:125642800-125653600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:125643000-125646400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:125643000-125646600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:125643000-125646600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:125643000-125646800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:125643000-125647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:125643000-125652200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:125643000-125653800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:125643200-125647000	Weak transcription	HUVEC	blood vessel
25	chr8:125643400-125656200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:125643800-125647000	Weak transcription	Lung	lung
27	chr8:125643800-125647000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:125643800-125656000	Weak transcription	HMEC	breast
29	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:125644000-125646800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:125644000-125646800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:125644000-125646800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:125644000-125647000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:125644000-125647000	Weak transcription	Fetal Heart	heart
35	chr8:125644000-125647400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:125644000-125649000	Weak transcription	Stomach Mucosa	stomach
37	chr8:125644200-125646600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:125644200-125646800	Weak transcription	K562	blood
39	chr8:125644200-125647000	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:125644200-125647000	Weak transcription	Placenta	Placenta
41	chr8:125644200-125647000	Weak transcription	Spleen	Spleen
42	chr8:125644200-125647400	Weak transcription	Brain Substantia Nigra	brain
43	chr8:125644200-125647600	Weak transcription	Left Ventricle	heart
44	chr8:125644200-125647800	Weak transcription	Psoas Muscle	Psoas
45	chr8:125644200-125647800	Weak transcription	Right Atrium	heart
46	chr8:125644200-125648000	Weak transcription	Fetal Intestine Large	intestine
47	chr8:125644200-125648000	Weak transcription	Right Ventricle	heart
48	chr8:125644200-125648200	Weak transcription	Adipose Nuclei	Adipose
49	chr8:125644200-125648200	Weak transcription	Gastric	stomach
50	chr8:125644200-125648200	Weak transcription	Pancreas	Pancrea

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