Variant report

Variant	rs7748278
Chromosome Location	chr6:144664026-144664027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144662894..144665141-chr6:144667747..144670464,2	K562	blood:
2	chr6:144651662..144654238-chr6:144661982..144664850,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11965745	1.00[ASN][1000 genomes]
rs2223428	1.00[ASN][1000 genomes]
rs2328570	1.00[ASN][1000 genomes]
rs35325795	0.99[AFR][1000 genomes]
rs4546509	1.00[ASN][1000 genomes]
rs57580585	1.00[ASN][1000 genomes]
rs59893699	1.00[ASN][1000 genomes]
rs6902637	1.00[ASN][1000 genomes]
rs6905106	0.83[AMR][1000 genomes]
rs6910059	1.00[ASN][1000 genomes]
rs6917261	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6922109	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs6922608	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6927798	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6936691	1.00[ASN][1000 genomes]
rs7755700	1.00[ASN][1000 genomes]
rs9321973	1.00[ASN][1000 genomes]
rs9484865	0.83[AMR][1000 genomes]
rs9484868	1.00[ASN][1000 genomes]
rs9484871	1.00[ASN][1000 genomes]
rs9484873	1.00[ASN][1000 genomes]
rs9496932	0.85[AFR][1000 genomes]
rs9496935	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9496938	0.97[AFR][1000 genomes]
rs9496951	1.00[ASN][1000 genomes]
rs9496952	1.00[ASN][1000 genomes]
rs9496953	1.00[ASN][1000 genomes]
rs9496954	1.00[ASN][1000 genomes]
rs9496961	1.00[ASN][1000 genomes]
rs9496965	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
2	chr6:144652000-144668200	Weak transcription	Aorta	Aorta
3	chr6:144653200-144684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:144653400-144665200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:144653600-144665000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:144656000-144664200	Weak transcription	Fetal Kidney	kidney
7	chr6:144656000-144665200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:144656000-144665200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:144656000-144668400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:144656000-144670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:144656600-144664800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:144657000-144670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:144657200-144664800	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:144657200-144665200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:144657400-144665000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:144657800-144666400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:144658200-144664400	Weak transcription	Fetal Intestine Large	intestine
18	chr6:144658200-144668200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:144658400-144664400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:144658400-144670400	Weak transcription	Fetal Lung	lung
21	chr6:144659200-144664800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:144659600-144665200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:144659800-144664800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:144660000-144665400	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:144660000-144667800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:144660200-144664600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:144660200-144665000	Enhancers	NHEK	skin
28	chr6:144660200-144665200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:144660200-144667600	Weak transcription	Placenta	Placenta
30	chr6:144660400-144668200	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:144660400-144670800	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:144660800-144665400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:144661000-144666600	Enhancers	Stomach Mucosa	stomach
34	chr6:144661200-144664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:144661200-144664200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:144661200-144665200	Enhancers	Adipose Nuclei	Adipose
37	chr6:144661600-144664200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr6:144661600-144664400	Weak transcription	Right Atrium	heart
39	chr6:144661600-144665200	Weak transcription	Lung	lung
40	chr6:144661600-144665400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr6:144661600-144665400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr6:144661600-144666400	Weak transcription	Spleen	Spleen
43	chr6:144661600-144670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:144661600-144670800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:144661800-144664600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:144661800-144670800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:144662000-144664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:144662000-144664400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:144662000-144664600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:144662000-144664800	Enhancers	HUVEC	blood vessel

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