Variant report

Variant	rs71381461
Chromosome Location	chr17:33920620-33920621
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33920166..33922010-chr17:33979222..33981108,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11650225	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650621	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651380	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652390	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11653354	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654542	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656872	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657558	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936539	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936693	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12937370	0.83[AFR][1000 genomes]
rs12939138	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939481	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939818	0.83[AFR][1000 genomes]
rs12940370	0.83[AFR][1000 genomes]
rs12940422	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940584	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12943224	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945102	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945419	0.83[AFR][1000 genomes]
rs12945980	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947274	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949877	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12951703	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17606150	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608253	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17638076	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17669281	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670584	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670614	1.00[EUR][1000 genomes]
rs17676508	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34063751	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874930	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34937989	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3506	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35515868	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672532	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774966	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531775	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71381460	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71381463	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71381465	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381467	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381469	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33915000-33922000	Weak transcription	Spleen	Spleen
2	chr17:33915000-33923600	Weak transcription	Gastric	stomach
3	chr17:33915200-33921800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:33915200-33923400	Weak transcription	Colonic Mucosa	Colon
5	chr17:33915200-33923600	Weak transcription	Esophagus	oesophagus
6	chr17:33915200-33923600	Weak transcription	Pancreas	Pancrea
7	chr17:33915200-33930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:33915200-33932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:33915400-33923600	Weak transcription	Aorta	Aorta
10	chr17:33915600-33920800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:33915600-33921000	Weak transcription	Placenta	Placenta
12	chr17:33915600-33921200	Weak transcription	Fetal Thymus	thymus
13	chr17:33915600-33921800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:33915600-33922200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:33915600-33923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
17	chr17:33915800-33921000	Weak transcription	HSMMtube	muscle
18	chr17:33915800-33921200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr17:33915800-33921800	Weak transcription	Thymus	Thymus
20	chr17:33915800-33922000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr17:33915800-33922000	Weak transcription	Fetal Muscle Leg	muscle
22	chr17:33915800-33923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:33915800-33923600	Weak transcription	Right Ventricle	heart
24	chr17:33916000-33921800	Weak transcription	Psoas Muscle	Psoas
25	chr17:33916000-33923800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
27	chr17:33916400-33920800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr17:33916400-33924200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr17:33916600-33920800	Weak transcription	Primary B cells from cord blood	blood
31	chr17:33916600-33920800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:33916600-33921200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr17:33916600-33921200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:33916600-33921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:33916600-33921600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:33916600-33922000	Weak transcription	Brain Hippocampus Middle	brain
37	chr17:33916600-33923800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr17:33916800-33920800	Weak transcription	Osteobl	bone
39	chr17:33916800-33921000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:33916800-33921000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:33916800-33921000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr17:33916800-33921000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:33916800-33921000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:33916800-33921000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr17:33916800-33921000	Weak transcription	NH-A	brain
46	chr17:33916800-33921200	Weak transcription	Primary T cells from cord blood	blood
47	chr17:33916800-33921200	Weak transcription	Adipose Nuclei	Adipose
48	chr17:33916800-33921200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:33916800-33921200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr17:33916800-33921200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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