Variant report

Variant	rs7986805
Chromosome Location	chr13:49660418-49660419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49656046..49658921-chr13:49658986..49660902,2	K562	blood:
2	chr13:49660417..49663395-chr13:49676657..49679527,2	MCF-7	breast:
3	chr13:49649325..49651270-chr13:49659429..49661263,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11618890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17465832	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35468616	1.00[ASN][1000 genomes]
rs59746195	1.00[ASN][1000 genomes]
rs74072712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983637	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7984693	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7986232	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv976274	chr13:49655803-49666815	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1035	chr13:49656225-49700371	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49601800-49660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:49627400-49672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr13:49629000-49665600	Weak transcription	Lung	lung
4	chr13:49629600-49665400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:49630400-49664000	Weak transcription	Fetal Intestine Small	intestine
6	chr13:49632200-49664800	Weak transcription	Fetal Lung	lung
7	chr13:49635000-49664400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:49636800-49667800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:49639600-49687200	Weak transcription	Pancreas	Pancrea
10	chr13:49640600-49683800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:49641200-49663200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:49641800-49671600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:49645000-49671000	Weak transcription	Small Intestine	intestine
14	chr13:49646400-49660800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:49649400-49684200	Weak transcription	Right Ventricle	heart
16	chr13:49649800-49671600	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:49651400-49660600	Weak transcription	Adipose Nuclei	Adipose
18	chr13:49651400-49665600	Weak transcription	Fetal Thymus	thymus
19	chr13:49651400-49666800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr13:49651600-49663800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr13:49651600-49670200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:49651600-49670800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:49651800-49664800	Weak transcription	Fetal Stomach	stomach
24	chr13:49651800-49665000	Weak transcription	Fetal Muscle Leg	muscle
25	chr13:49651800-49671000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:49651800-49671800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr13:49651800-49684000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr13:49651800-49684000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:49652000-49661400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr13:49652000-49667600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr13:49652000-49671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:49652400-49671600	Weak transcription	Spleen	Spleen
33	chr13:49653600-49660600	Weak transcription	Dnd41	blood
34	chr13:49655200-49667400	Weak transcription	HepG2	liver
35	chr13:49655600-49684200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr13:49656000-49673000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr13:49657000-49661600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:49657200-49671600	Weak transcription	Ovary	ovary
39	chr13:49657200-49672200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:49657200-49692400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:49657400-49660800	Weak transcription	NH-A	brain
42	chr13:49657400-49662400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr13:49657400-49665600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:49657400-49668200	Weak transcription	Thymus	Thymus
45	chr13:49657400-49670800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:49657400-49670800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:49657400-49670800	Weak transcription	Aorta	Aorta
48	chr13:49657400-49671200	Weak transcription	HSMM	muscle
49	chr13:49657400-49671600	Weak transcription	Left Ventricle	heart
50	chr13:49657400-49674800	Weak transcription	Fetal Intestine Large	intestine

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