Variant report

Variant	rs17074504
Chromosome Location	chr13:30854631-30854632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10488670	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17633138	1.00[CEU][hapmap]
rs58215017	0.92[ASN][1000 genomes]
rs614986	1.00[CEU][hapmap]
rs7322430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336250	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs766994	1.00[CEU][hapmap]
rs7983319	0.87[AFR][1000 genomes]
rs7990931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899962	chr13:30831422-30863235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30826800-30860400	Weak transcription	Esophagus	oesophagus
2	chr13:30828600-30857600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr13:30832200-30855400	Weak transcription	Fetal Brain Male	brain
4	chr13:30832200-30861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:30832200-30863400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr13:30832200-30863800	Weak transcription	HSMMtube	muscle
7	chr13:30832400-30859400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr13:30837800-30860000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:30840400-30859800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:30842400-30858200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:30842400-30863800	Weak transcription	Ovary	ovary
12	chr13:30843000-30857600	Weak transcription	A549	lung
13	chr13:30843000-30880200	Weak transcription	Fetal Stomach	stomach
14	chr13:30843600-30855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr13:30844000-30854800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:30845200-30866200	Weak transcription	Small Intestine	intestine
17	chr13:30845600-30863400	Weak transcription	K562	blood
18	chr13:30847000-30859800	Weak transcription	Brain Germinal Matrix	brain
19	chr13:30847200-30859400	Weak transcription	Brain Anterior Caudate	brain
20	chr13:30847200-30860400	Weak transcription	Brain Substantia Nigra	brain
21	chr13:30847200-30876000	Weak transcription	Lung	lung
22	chr13:30847400-30860800	Weak transcription	Spleen	Spleen
23	chr13:30847400-30867800	Weak transcription	Right Ventricle	heart
24	chr13:30847400-30870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:30847600-30857200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr13:30848000-30862600	Weak transcription	HepG2	liver
27	chr13:30848200-30857600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:30849000-30856000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:30849000-30862800	Weak transcription	Fetal Heart	heart
30	chr13:30849400-30859400	Weak transcription	Aorta	Aorta
31	chr13:30849600-30856400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:30849600-30858400	Weak transcription	Fetal Muscle Leg	muscle
33	chr13:30849600-30858800	Weak transcription	GM12878-XiMat	blood
34	chr13:30849600-30860800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:30849600-30862800	Weak transcription	Fetal Lung	lung
36	chr13:30849600-30866000	Weak transcription	Thymus	Thymus
37	chr13:30849800-30856600	Strong transcription	Dnd41	blood
38	chr13:30849800-30860400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:30849800-30870200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr13:30850000-30860400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:30850600-30856600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:30850600-30857000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr13:30850600-30859400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr13:30850800-30862200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr13:30850800-30872000	Weak transcription	Primary B cells from cord blood	blood
46	chr13:30851000-30867400	Weak transcription	Primary T cells from cord blood	blood
47	chr13:30851200-30855800	Weak transcription	Fetal Brain Female	brain
48	chr13:30851200-30859000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr13:30851600-30863600	Weak transcription	NHEK	skin
50	chr13:30851800-30874200	Weak transcription	HUVEC	blood vessel

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