Variant report

Variant	rs17135115
Chromosome Location	chr7:4820581-4820582
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	POLR2A	chr7:4820535-4821204	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:4813279..4817996-chr7:4818432..4827499,15	MCF-7	breast:
2	chr7:4815181..4818417-chr7:4818963..4822652,6	K562	blood:
3	chr7:4815353..4817520-chr7:4819712..4821919,3	K562	blood:
4	chr7:4818366..4820585-chr7:4824717..4826372,2	K562	blood:

Variant related genes	Relation type
AP5Z1	TF binding region
ENSG00000242802	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10215582	0.83[EUR][1000 genomes]
rs11764272	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11764275	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11768079	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11769768	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11772411	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12701943	0.80[ASN][1000 genomes]
rs17135102	0.81[CHD][hapmap]
rs17135110	1.00[CEU][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17135121	0.80[ASN][1000 genomes]
rs17135128	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17829969	1.00[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap]
rs3750013	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3750014	0.81[CHD][hapmap]
rs3816851	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57468476	0.86[EUR][1000 genomes]
rs59174566	0.80[ASN][1000 genomes]
rs6962686	1.00[YRI][hapmap]
rs73671922	0.80[ASN][1000 genomes]
rs7801122	0.81[CHD][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
16	nsv482101	chr7:4815264-4831397	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	8 gene(s)	inside rSNPs	diseases
17	nsv887383	chr7:4817460-4845701	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
18	esv1846003	chr7:4817952-4845248	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
19	nsv605977	chr7:4820581-4841349	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
20	nsv887384	chr7:4820581-4851897	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
21	nsv887385	chr7:4820581-4860835	Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
22	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4816000-4820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:4816000-4820600	Weak transcription	Small Intestine	intestine
3	chr7:4816000-4820800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:4816000-4820800	Weak transcription	Aorta	Aorta
5	chr7:4816000-4832000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:4816200-4820600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:4816200-4820600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:4816200-4820600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:4816200-4820600	Weak transcription	HSMMtube	muscle
10	chr7:4816200-4820800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:4816200-4820800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:4816200-4820800	Weak transcription	Fetal Lung	lung
13	chr7:4816200-4820800	Weak transcription	A549	lung
14	chr7:4816200-4821200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:4816200-4832000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:4816200-4834400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:4816400-4820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:4816600-4820600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:4816600-4820600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:4816600-4820600	Weak transcription	Ovary	ovary
21	chr7:4816600-4820600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:4816600-4820800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:4816600-4822200	Weak transcription	Fetal Kidney	kidney
24	chr7:4816600-4830600	Weak transcription	Psoas Muscle	Psoas
25	chr7:4816600-4834800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:4816800-4820600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:4816800-4820600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:4816800-4820600	Weak transcription	Brain Substantia Nigra	brain
29	chr7:4816800-4820600	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:4816800-4820600	Weak transcription	HSMM	muscle
31	chr7:4816800-4820800	Weak transcription	Brain Anterior Caudate	brain
32	chr7:4816800-4820800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:4816800-4821000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:4816800-4821000	Weak transcription	NHEK	skin
35	chr7:4816800-4823000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:4816800-4823600	Weak transcription	Fetal Heart	heart
37	chr7:4816800-4826000	Weak transcription	NH-A	brain
38	chr7:4816800-4834400	Weak transcription	K562	blood
39	chr7:4816800-4834800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:4817000-4820600	Weak transcription	Fetal Brain Female	brain
41	chr7:4817000-4820600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:4817000-4820600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:4817000-4826000	Weak transcription	HMEC	breast
44	chr7:4817200-4832000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:4817400-4820600	Weak transcription	Colonic Mucosa	Colon
46	chr7:4817400-4820600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:4817400-4825600	Weak transcription	NHDF-Ad	bronchial
48	chr7:4817600-4820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:4817800-4830400	Weak transcription	Hela-S3	cervix
50	chr7:4818000-4831600	Weak transcription	Stomach Mucosa	stomach

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