Variant report

Variant	rs3829006
Chromosome Location	chr7:70233269-70233270
allele	A/G
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	POLR2A	chr7:70232678-70233299	H1-neurons	neurons:	n/a	n/a
2	WRNIP1	chr7:70232789-70233422	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
AUTS2	TF binding region

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10950212	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11766719	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11768020	0.88[ASN][1000 genomes]
rs12671262	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12673908	0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs13227667	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1544009	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1569079	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2293509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35363074	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6460555	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460556	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6955943	0.94[ASN][1000 genomes]
rs6959459	0.91[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs6960426	0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs73181096	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73445005	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7782110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active 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	2 gene(s)	inside rSNPs	diseases
5	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70214800-70250000	Weak transcription	Psoas Muscle	Psoas
2	chr7:70218600-70241600	Weak transcription	Fetal Heart	heart
3	chr7:70222000-70258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:70223200-70238000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:70223400-70237400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:70226400-70254800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:70227400-70233400	Strong transcription	Fetal Stomach	stomach
8	chr7:70227400-70237400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:70227400-70253000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:70227600-70233400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:70227600-70234600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:70227600-70236600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:70227600-70237400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:70227600-70241400	Strong transcription	Dnd41	blood
15	chr7:70228000-70249400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:70228200-70236200	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:70228400-70236400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr7:70228400-70250000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:70228400-70257400	Weak transcription	Right Atrium	heart
20	chr7:70228600-70238400	Strong transcription	Primary T cells from cord blood	blood
21	chr7:70228600-70238600	Weak transcription	Brain Angular Gyrus	brain
22	chr7:70228800-70238000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:70228800-70241600	Weak transcription	NHDF-Ad	bronchial
24	chr7:70229000-70234600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:70229000-70239200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:70229200-70234800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:70229200-70236600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:70229400-70240200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:70229400-70259600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:70229400-70259600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr7:70229600-70235200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:70229600-70236800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:70229600-70240200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:70229600-70241600	Strong transcription	Fetal Muscle Leg	muscle
35	chr7:70229600-70242200	Weak transcription	Small Intestine	intestine
36	chr7:70229800-70234000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:70229800-70241200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:70230000-70233400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr7:70230000-70233400	Strong transcription	NH-A	brain
40	chr7:70230000-70233800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:70230000-70234800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:70230000-70239400	Strong transcription	Fetal Thymus	thymus
43	chr7:70230000-70241200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:70230200-70233400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:70230200-70233400	Strong transcription	Fetal Lung	lung
46	chr7:70230200-70233400	Strong transcription	HSMM	muscle
47	chr7:70230200-70254000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:70230200-70257400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr7:70230400-70233400	Strong transcription	Fetal Kidney	kidney
50	chr7:70230400-70242400	Weak transcription	Primary B cells from peripheral blood	blood

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