Variant report

Variant	rs7531940
Chromosome Location	chr1:113540651-113540652
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	chr1:113493684..113495226-chr1:113539915..113542867,2	K562	blood:
2	chr1:113540112..113542991-chr1:113560118..113562958,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12123601	0.85[YRI][hapmap]
rs17030971	1.00[AMR][1000 genomes]
rs17030973	1.00[AMR][1000 genomes]
rs17030981	1.00[AMR][1000 genomes]
rs17031010	1.00[AMR][1000 genomes]
rs17031018	1.00[AMR][1000 genomes]
rs3925280	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990374	1.00[AMR][1000 genomes]
rs7531288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553057	1.00[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113510800-113541800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:113511200-113540800	Weak transcription	HSMM	muscle
3	chr1:113511200-113545800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:113511200-113546400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:113511200-113558000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:113511200-113558600	Weak transcription	NHDF-Ad	bronchial
7	chr1:113511200-113564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:113513800-113541000	Weak transcription	Hela-S3	cervix
9	chr1:113514000-113541200	Weak transcription	K562	blood
10	chr1:113516800-113541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:113517800-113542800	Weak transcription	Dnd41	blood
12	chr1:113526400-113541600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:113526600-113564200	Weak transcription	Placenta	Placenta
14	chr1:113526800-113558600	Weak transcription	GM12878-XiMat	blood
15	chr1:113528200-113556600	Weak transcription	Small Intestine	intestine
16	chr1:113529000-113554400	Weak transcription	Lung	lung
17	chr1:113532200-113541600	Weak transcription	Thymus	Thymus
18	chr1:113533600-113555600	Weak transcription	Fetal Lung	lung
19	chr1:113534400-113541400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:113534400-113548400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:113535400-113544200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:113535600-113543400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:113535600-113549200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:113535600-113552200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:113535600-113557000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:113535800-113550600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:113535800-113564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:113535800-113564000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:113535800-113564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:113535800-113568800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:113537000-113543000	Enhancers	Fetal Heart	heart
32	chr1:113537200-113541200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:113537200-113554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:113537400-113541200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:113537400-113541200	Weak transcription	Osteobl	bone
36	chr1:113537400-113546000	Weak transcription	NHLF	lung
37	chr1:113537400-113550400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:113537400-113554200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:113537600-113541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:113537600-113552800	Weak transcription	Fetal Thymus	thymus
41	chr1:113538200-113541400	Enhancers	Stomach Mucosa	stomach
42	chr1:113538400-113541000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:113538400-113545200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:113538600-113541000	Weak transcription	HMEC	breast
45	chr1:113538600-113542800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:113538600-113558600	Weak transcription	Spleen	Spleen
47	chr1:113538800-113540800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:113538800-113546000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:113539000-113540800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:113539200-113541200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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