Variant report

Variant	rs16899873
Chromosome Location	chr8:125633404-125633405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:125633162-125633473	K562	blood:	n/a	n/a
2	CUX1	chr8:125633322-125633484	K562	blood:	n/a	n/a
3	FOS	chr8:125633146-125633599	HUVEC	blood vessel:	n/a	chr8:125633411-125633422 chr8:125633483-125633494 chr8:125633487-125633496 chr8:125633480-125633492
4	GATA2	chr8:125633111-125633566	HUVEC	blood vessel:	n/a	n/a
5	TCF7L2	chr8:125633065-125633689	Hela-S3	cervix:	n/a	n/a
6	EGR1	chr8:125633257-125633431	K562	blood:	n/a	n/a
7	EGR1	chr8:125633181-125633423	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125633171..125635240-chr8:125826139..125827745,2	K562	blood:
2	chr8:125627070..125629934-chr8:125632719..125634846,3	MCF-7	breast:
3	chr8:125612814..125615760-chr8:125633256..125635974,2	MCF-7	breast:

Variant related genes	Relation type
MTSS1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1023694	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs11780712	0.93[ASN][1000 genomes]
rs12545201	1.00[AFR][1000 genomes]
rs16893079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899847	0.85[AMR][1000 genomes]
rs16899858	0.95[AMR][1000 genomes]
rs16899867	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899876	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16899898	1.00[AFR][1000 genomes]
rs1978662	0.92[CHB][hapmap];0.93[ASN][1000 genomes]
rs3750231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871521	0.91[ASN][1000 genomes]
rs919543	1.00[CEU][hapmap]
rs919547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs934323	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
3	chr8:125624200-125633800	Enhancers	Brain Hippocampus Middle	brain
4	chr8:125625200-125634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:125626400-125638800	Weak transcription	HMEC	breast
6	chr8:125626600-125635600	Enhancers	Fetal Heart	heart
7	chr8:125627000-125633600	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:125627200-125633600	Enhancers	Brain Anterior Caudate	brain
9	chr8:125627200-125633800	Enhancers	Placenta	Placenta
10	chr8:125627200-125634200	Enhancers	Fetal Muscle Leg	muscle
11	chr8:125627200-125635400	Enhancers	Fetal Thymus	thymus
12	chr8:125627200-125635400	Enhancers	Left Ventricle	heart
13	chr8:125627200-125635400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr8:125627800-125633600	Weak transcription	GM12878-XiMat	blood
15	chr8:125628200-125634600	Enhancers	Right Ventricle	heart
16	chr8:125628600-125633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:125629000-125633600	Enhancers	HSMMtube	muscle
18	chr8:125629200-125633800	Enhancers	Right Atrium	heart
19	chr8:125629400-125634200	Enhancers	Fetal Muscle Trunk	muscle
20	chr8:125629400-125634200	Enhancers	Psoas Muscle	Psoas
21	chr8:125629400-125640200	Enhancers	Fetal Brain Male	brain
22	chr8:125629600-125634000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:125629600-125634200	Enhancers	Fetal Brain Female	brain
24	chr8:125630400-125633800	Enhancers	Osteobl	bone
25	chr8:125630600-125634200	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:125631200-125633800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:125631400-125636200	Enhancers	Spleen	Spleen
28	chr8:125631600-125633800	Enhancers	HSMM	muscle
29	chr8:125631800-125634200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:125631800-125634600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:125631800-125634800	Enhancers	Liver	Liver
32	chr8:125631800-125634800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:125631800-125635800	Enhancers	Adipose Nuclei	Adipose
34	chr8:125631800-125636000	Enhancers	Brain Germinal Matrix	brain
35	chr8:125631800-125638200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:125631800-125638400	Weak transcription	Esophagus	oesophagus
37	chr8:125631800-125639200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:125631800-125639200	Weak transcription	Pancreas	Pancrea
39	chr8:125631800-125639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:125632000-125638600	Weak transcription	NHEK	skin
41	chr8:125632200-125634600	Enhancers	HepG2	liver
42	chr8:125632200-125638800	Weak transcription	Gastric	stomach
43	chr8:125632400-125633800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:125632400-125633800	Enhancers	Stomach Mucosa	stomach
45	chr8:125632400-125634400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:125632400-125640200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:125632400-125640600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:125632600-125633800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:125632600-125633800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:125632800-125633600	Genic enhancers	Primary B cells from cord blood	blood

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