Variant report

Variant	rs9429504
Chromosome Location	chr1:113453982-113453983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113453403..113455887-chr1:113526487..113529032,2	MCF-7	breast:
2	chr1:113445118..113448523-chr1:113453652..113455842,3	MCF-7	breast:
3	chr1:113453716..113456463-chr1:113462131..113464691,2	K562	blood:
4	chr1:113452222..113455252-chr1:113457293..113459554,4	K562	blood:
5	chr1:113453527..113457019-chr1:113457293..113460216,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1216795	0.82[ASW][hapmap]
rs1216809	0.82[ASW][hapmap]
rs17030813	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030827	0.84[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030832	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17493313	1.00[YRI][hapmap]
rs59903193	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113439200-113459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:113439200-113460400	Weak transcription	Aorta	Aorta
3	chr1:113440200-113456400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:113440400-113459600	Weak transcription	Primary T cells from cord blood	blood
5	chr1:113444400-113454400	Weak transcription	HepG2	liver
6	chr1:113444400-113456600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:113446000-113456600	Weak transcription	Fetal Heart	heart
8	chr1:113446200-113455600	Weak transcription	A549	lung
9	chr1:113446400-113457800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:113446600-113459600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:113446800-113459800	Weak transcription	Psoas Muscle	Psoas
12	chr1:113447000-113454600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:113447200-113455400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:113447200-113456000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:113447200-113456400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:113447400-113459200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:113447400-113459600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:113447600-113456200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:113447800-113457800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:113447800-113458000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:113447800-113459600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:113447800-113470200	Weak transcription	Fetal Kidney	kidney
23	chr1:113448200-113457800	Weak transcription	Ovary	ovary
24	chr1:113448400-113457800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:113448600-113457600	Weak transcription	NHDF-Ad	bronchial
26	chr1:113448800-113454400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:113448800-113455600	Weak transcription	GM12878-XiMat	blood
28	chr1:113448800-113458600	Weak transcription	Fetal Stomach	stomach
29	chr1:113448800-113459400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:113449000-113454200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:113449000-113455200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:113449000-113455800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:113449000-113456200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:113449000-113456400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:113449000-113456400	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:113449000-113456400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:113449000-113456600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:113449000-113457800	Weak transcription	Left Ventricle	heart
39	chr1:113449000-113457800	Weak transcription	Right Ventricle	heart
40	chr1:113449000-113457800	Weak transcription	NHLF	lung
41	chr1:113449000-113458000	Weak transcription	Primary B cells from cord blood	blood
42	chr1:113449000-113458000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:113449000-113458000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:113449000-113460400	Weak transcription	Fetal Lung	lung
45	chr1:113449000-113465600	Weak transcription	Placenta	Placenta
46	chr1:113449000-113466000	Weak transcription	Esophagus	oesophagus
47	chr1:113449000-113468400	Weak transcription	Lung	lung
48	chr1:113449200-113454600	Weak transcription	Small Intestine	intestine
49	chr1:113449200-113457800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:113449200-113458000	Weak transcription	NH-A	brain

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