Variant report

Variant	rs7317511
Chromosome Location	chr13:80134644-80134645
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10492579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10507899	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1335373	0.92[EUR][1000 genomes]
rs1335374	0.88[EUR][1000 genomes]
rs1414157	1.00[EUR][1000 genomes]
rs17071385	1.00[CEU][hapmap]
rs17071415	1.00[CEU][hapmap]
rs17071499	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17071532	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17071549	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17071558	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17071566	1.00[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071574	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17071585	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17071627	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071632	0.92[EUR][1000 genomes]
rs41288268	0.92[EUR][1000 genomes]
rs56711390	1.00[EUR][1000 genomes]
rs57032852	1.00[EUR][1000 genomes]
rs57929179	0.96[EUR][1000 genomes]
rs58056613	0.88[EUR][1000 genomes]
rs58069884	0.82[EUR][1000 genomes]
rs58406632	1.00[EUR][1000 genomes]
rs59165380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59381369	0.92[EUR][1000 genomes]
rs59755477	0.80[EUR][1000 genomes]
rs59783325	1.00[EUR][1000 genomes]
rs60126328	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61318325	0.96[EUR][1000 genomes]
rs61676417	1.00[EUR][1000 genomes]
rs6563107	1.00[CEU][hapmap]
rs6563117	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7317409	0.92[EUR][1000 genomes]
rs7318854	0.92[EUR][1000 genomes]
rs7327148	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7329633	0.84[EUR][1000 genomes]
rs7331979	1.00[CEU][hapmap]
rs7335191	0.88[EUR][1000 genomes]
rs7338043	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73548951	0.92[EUR][1000 genomes]
rs73548955	0.92[EUR][1000 genomes]
rs73551558	0.92[EUR][1000 genomes]
rs73551595	1.00[EUR][1000 genomes]
rs73551596	1.00[EUR][1000 genomes]
rs73551597	1.00[EUR][1000 genomes]
rs73551601	1.00[EUR][1000 genomes]
rs73551602	1.00[EUR][1000 genomes]
rs73553403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553418	0.96[EUR][1000 genomes]
rs73553424	1.00[EUR][1000 genomes]
rs73553431	1.00[EUR][1000 genomes]
rs73553447	1.00[EUR][1000 genomes]
rs73553448	0.96[EUR][1000 genomes]
rs73553473	1.00[EUR][1000 genomes]
rs73553481	0.96[EUR][1000 genomes]
rs73553499	0.92[EUR][1000 genomes]
rs73555409	0.88[EUR][1000 genomes]
rs73555411	0.92[EUR][1000 genomes]
rs73555415	0.92[EUR][1000 genomes]
rs7491258	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7981574	1.00[EUR][1000 genomes]
rs7984159	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7984598	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7985220	0.82[EUR][1000 genomes]
rs7985697	0.92[EUR][1000 genomes]
rs7990190	1.00[EUR][1000 genomes]
rs7990464	1.00[EUR][1000 genomes]
rs7992181	1.00[CEU][hapmap]
rs7997554	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7998452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8000870	1.00[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
2	chr13:80100600-80136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr13:80123000-80135000	Weak transcription	Stomach Mucosa	stomach
4	chr13:80130000-80134800	Strong transcription	Dnd41	blood
5	chr13:80130600-80135600	ZNF genes & repeats	NHEK	skin
6	chr13:80131600-80135200	ZNF genes & repeats	Liver	Liver
7	chr13:80131800-80135600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:80131800-80135600	ZNF genes & repeats	HMEC	breast
9	chr13:80132000-80135800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:80132200-80135200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr13:80132200-80136000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:80133000-80134800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:80133000-80135800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr13:80133200-80134800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
15	chr13:80133200-80135000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:80133200-80135400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
17	chr13:80133200-80135400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
18	chr13:80133200-80135600	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr13:80133400-80137000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:80133600-80135400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr13:80133600-80135600	Weak transcription	Osteobl	bone
22	chr13:80133600-80136000	Weak transcription	Primary T cells from cord blood	blood
23	chr13:80134000-80135200	ZNF genes & repeats	Aorta	Aorta
24	chr13:80134000-80135400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr13:80134000-80138800	Weak transcription	Left Ventricle	heart
26	chr13:80134200-80135000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:80134200-80135000	ZNF genes & repeats	Esophagus	oesophagus
28	chr13:80134200-80135000	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr13:80134200-80135400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:80134200-80135600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:80134200-80136400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr13:80134400-80135000	ZNF genes & repeats	A549	lung
33	chr13:80134400-80135000	ZNF genes & repeats	HSMMtube	muscle
34	chr13:80134400-80135600	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr13:80134600-80135200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr13:80134600-80135200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:80134600-80135200	ZNF genes & repeats	Pancreas	Pancrea

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