Variant report

Variant	rs6969848
Chromosome Location	chr7:13960321-13960322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17167656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2074671	0.86[ASN][1000 genomes]
rs2282874	0.99[ASN][1000 genomes]
rs2282875	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2282876	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs2282877	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2282882	0.95[ASN][1000 genomes]
rs3801090	0.95[ASN][1000 genomes]
rs58139784	0.89[ASN][1000 genomes]
rs59158053	0.92[ASN][1000 genomes]
rs59297103	0.92[ASN][1000 genomes]
rs59385207	0.89[ASN][1000 genomes]
rs59963849	0.89[ASN][1000 genomes]
rs60333912	0.92[ASN][1000 genomes]
rs60715239	0.92[ASN][1000 genomes]
rs6957019	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6973935	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974090	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974152	0.91[GIH][hapmap];0.84[MEX][hapmap]
rs73273365	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers 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
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv887701	chr7:13955324-13988170	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:13945600-13974400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:13946200-13969200	Weak transcription	Liver	Liver
6	chr7:13949000-13969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:13949200-13969000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:13949200-13969200	Weak transcription	Left Ventricle	heart
9	chr7:13949400-13962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:13958600-13960400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:13958600-13960600	Enhancers	HSMM	muscle
12	chr7:13958600-13960800	Enhancers	Hela-S3	cervix
13	chr7:13958600-13961400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:13958800-13960600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:13958800-13960600	Enhancers	Fetal Kidney	kidney
16	chr7:13959000-13961400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:13959400-13960400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:13959400-13960400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:13959400-13960400	Flanking Active TSS	Osteobl	bone
20	chr7:13959400-13960600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:13959400-13960600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:13959400-13961200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:13959600-13960400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:13959600-13960400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr7:13959600-13960600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:13959600-13960800	Enhancers	Fetal Heart	heart
27	chr7:13959600-13960800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:13959600-13961200	Enhancers	Fetal Intestine Large	intestine
29	chr7:13959600-13961400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:13959800-13960400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:13959800-13960400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:13959800-13960400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:13959800-13960400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:13959800-13960400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:13959800-13960400	Enhancers	Fetal Stomach	stomach
36	chr7:13959800-13960400	Enhancers	Psoas Muscle	Psoas
37	chr7:13959800-13960400	Enhancers	Right Atrium	heart
38	chr7:13959800-13960400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr7:13959800-13960400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:13959800-13960600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:13959800-13960600	Enhancers	NHEK	skin
42	chr7:13959800-13961200	Enhancers	Fetal Intestine Small	intestine
43	chr7:13960000-13960400	Enhancers	Fetal Muscle Leg	muscle
44	chr7:13960000-13960400	Enhancers	Right Ventricle	heart
45	chr7:13960000-13960400	Flanking Active TSS	NHDF-Ad	bronchial
46	chr7:13960000-13960600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:13960000-13960600	Flanking Active TSS	NHLF	lung
48	chr7:13960000-13961000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:13960000-13961200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:13960200-13960400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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