Variant report

Variant	rs8063657
Chromosome Location	chr16:71891966-71891967
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71890852..71893516-chr16:71913818..71916856,4	K562	blood:
2	chr16:71890250..71892285-chr16:71892379..71894151,2	MCF-7	breast:
3	chr16:71890168..71892729-chr16:71898012..71900184,2	K562	blood:
4	chr16:71890922..71893196-chr16:71914291..71916326,2	K562	blood:
5	chr16:71878173..71880285-chr16:71891933..71895424,3	K562	blood:
6	chr16:71886073..71892139-chr16:71892415..71896075,7	K562	blood:

Variant related genes	Relation type
ENSG00000261765	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10500567	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10852507	0.85[EUR][1000 genomes]
rs11075906	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11640135	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11865456	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12149307	0.83[EUR][1000 genomes]
rs12149325	0.83[EUR][1000 genomes]
rs12149917	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12445564	0.92[EUR][1000 genomes]
rs12445641	0.83[EUR][1000 genomes]
rs12448086	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12921279	0.87[EUR][1000 genomes]
rs12921459	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12927691	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12934512	0.84[EUR][1000 genomes]
rs13330178	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17357420	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17358402	0.83[EUR][1000 genomes]
rs28667298	0.86[ASN][1000 genomes]
rs2878494	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3088285	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34029919	0.88[EUR][1000 genomes]
rs34664834	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35028754	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35209006	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35404791	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35535529	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35595148	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3751820	0.88[EUR][1000 genomes]
rs4528577	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71384781	0.88[EUR][1000 genomes]
rs71384782	0.84[EUR][1000 genomes]
rs71386939	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71386940	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7185027	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7188591	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7191848	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7195988	0.88[EUR][1000 genomes]
rs7197486	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7198834	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7200447	0.86[ASN][1000 genomes]
rs73586164	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8046044	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049508	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs8050058	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8052358	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8053906	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9940234	0.82[AFR][1000 genomes];0.84[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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised 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 target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
3	chr16:71881800-71895800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:71881800-71897000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:71881800-71899000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr16:71881800-71902000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:71882000-71903800	Strong transcription	Brain Germinal Matrix	brain
11	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71882400-71902400	Strong transcription	Fetal Stomach	stomach
13	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:71883600-71897000	Weak transcription	Hela-S3	cervix
15	chr16:71884600-71892000	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr16:71884600-71893000	Weak transcription	Fetal Kidney	kidney
17	chr16:71884600-71902000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr16:71885000-71893800	Weak transcription	NH-A	brain
19	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
20	chr16:71885400-71892800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:71885400-71893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:71885600-71892000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr16:71885600-71898000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
25	chr16:71885800-71892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:71886000-71892200	Weak transcription	Ovary	ovary
27	chr16:71886000-71893000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr16:71886000-71893400	Weak transcription	Colonic Mucosa	Colon
29	chr16:71886000-71893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:71886000-71898400	Weak transcription	HMEC	breast
31	chr16:71886400-71893600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:71886400-71904200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr16:71886400-71904600	Strong transcription	Fetal Brain Female	brain
34	chr16:71886600-71892800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:71886600-71894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr16:71887000-71893000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:71887200-71892000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:71887200-71892800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:71887200-71893200	Weak transcription	Esophagus	oesophagus
40	chr16:71887400-71893400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:71887600-71892200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:71887600-71896800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr16:71887800-71892800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:71888000-71892200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:71888000-71892600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:71888000-71892800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr16:71888000-71892800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:71888000-71893600	Weak transcription	Pancreas	Pancrea
49	chr16:71888000-71893800	Weak transcription	Aorta	Aorta
50	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel

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