Variant report

Variant	rs3924754
Chromosome Location	chr6:145117910-145117911
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	STAT3	chr6:145117823-145118105	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
UTRN	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10046132	1.00[JPT][hapmap]
rs10499234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10499236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13204138	1.00[JPT][hapmap]
rs13214975	1.00[JPT][hapmap]
rs17074101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17074125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17074126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17074127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17074128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17074139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17074162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074279	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3737260	1.00[CEU][hapmap]
rs4130560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4416688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56256643	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73779119	0.90[ASN][1000 genomes]
rs9390234	1.00[CEU][hapmap]
rs9399507	1.00[CEU][hapmap]
rs9403615	1.00[CEU][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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv886740	chr6:145105354-145199259	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145046000-145122200	Weak transcription	Colonic Mucosa	Colon
2	chr6:145066200-145126200	Weak transcription	Stomach Mucosa	stomach
3	chr6:145084000-145155800	Weak transcription	Right Ventricle	heart
4	chr6:145085400-145119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:145085800-145134800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:145089600-145138400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:145090000-145136800	Weak transcription	Fetal Heart	heart
8	chr6:145091000-145145000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:145093400-145119800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:145094400-145136800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:145095000-145119000	Weak transcription	NH-A	brain
12	chr6:145095200-145118800	Weak transcription	GM12878-XiMat	blood
13	chr6:145096000-145118600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:145096800-145118600	Weak transcription	HUVEC	blood vessel
15	chr6:145098000-145118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:145099600-145165800	Weak transcription	Small Intestine	intestine
17	chr6:145100000-145137600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr6:145100400-145118800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:145100400-145125600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:145100400-145133200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:145100400-145145000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:145102200-145123600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:145106400-145119200	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:145107800-145121000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:145108400-145120600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:145110200-145124200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:145110400-145137000	Strong transcription	Primary B cells from cord blood	blood
28	chr6:145110800-145120600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:145113600-145119600	Weak transcription	NHEK	skin
30	chr6:145113600-145126400	Weak transcription	Brain Substantia Nigra	brain
31	chr6:145113800-145120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:145114200-145135600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr6:145114600-145120600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr6:145114600-145120800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:145114600-145121200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:145114800-145119800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:145115200-145155000	Weak transcription	Esophagus	oesophagus
38	chr6:145115400-145119000	Weak transcription	Aorta	Aorta
39	chr6:145115400-145119000	Weak transcription	NHLF	lung
40	chr6:145115600-145119000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:145115600-145121400	Strong transcription	Primary T cells from cord blood	blood
42	chr6:145115600-145131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:145115600-145134800	Weak transcription	Lung	lung
44	chr6:145115800-145118600	Weak transcription	NHDF-Ad	bronchial
45	chr6:145115800-145119000	Weak transcription	HSMMtube	muscle
46	chr6:145115800-145156600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:145116000-145118200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:145116000-145118800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:145116000-145118800	Weak transcription	HSMM	muscle
50	chr6:145116000-145118800	Weak transcription	Osteobl	bone

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