Variant report

Variant	rs801210
Chromosome Location	chr7:66015768-66015769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66013223..66015993-chr7:66016033..66017607,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10950040	0.82[EUR][1000 genomes]
rs10950047	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11763224	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11766583	0.91[EUR][1000 genomes]
rs12666079	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12667394	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12672427	0.82[EUR][1000 genomes]
rs1267814	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13311962	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1638724	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1638725	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1638728	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1638732	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1638735	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1638738	0.85[EUR][1000 genomes]
rs1796212	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1796217	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1796218	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1796219	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1796222	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1796226	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1796227	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1862085	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1922722	0.91[EUR][1000 genomes]
rs2052089	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2420612	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2533282	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533283	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533284	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707851	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28425729	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28817617	0.88[EUR][1000 genomes]
rs2901267	0.89[EUR][1000 genomes]
rs35459055	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3735147	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718348	0.83[AFR][1000 genomes]
rs4718364	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4718385	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6460298	0.81[EUR][1000 genomes]
rs6460311	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6945896	0.83[EUR][1000 genomes]
rs6947441	0.91[EUR][1000 genomes]
rs6950988	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952881	0.81[ASN][1000 genomes]
rs6960848	0.82[EUR][1000 genomes]
rs6961853	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6966953	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6970767	0.84[EUR][1000 genomes]
rs6979167	0.88[EUR][1000 genomes]
rs73139927	0.89[EUR][1000 genomes]
rs73148689	0.82[EUR][1000 genomes]
rs73150604	0.83[EUR][1000 genomes]
rs73152714	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73377549	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73377594	0.89[EUR][1000 genomes]
rs7810213	0.83[EUR][1000 genomes]
rs801199	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs801212	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs801213	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs964971	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs801210	GS1-124K5.4	cis	Stomach	GTEx
rs801210	GS1-124K5.11	cis	Thyroid	GTEx
rs801210	GTF2IRD1P1	cis	Thyroid	GTEx
rs801210	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs801210	RNU6-96P	cis	Thyroid	GTEx
rs801210	GS1-124K5.4	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65995000-66017200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:65999800-66022400	Strong transcription	Fetal Stomach	stomach
3	chr7:66000600-66019200	Weak transcription	Fetal Kidney	kidney
4	chr7:66000800-66016600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:66001400-66022400	Weak transcription	Stomach Mucosa	stomach
6	chr7:66002800-66016000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:66003600-66018800	Weak transcription	GM12878-XiMat	blood
8	chr7:66003800-66022200	Strong transcription	Stomach Smooth Muscle	stomach
9	chr7:66003800-66022800	Strong transcription	Fetal Intestine Small	intestine
10	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:66004600-66016600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:66004800-66019200	Weak transcription	HUVEC	blood vessel
13	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
14	chr7:66005000-66016800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:66005200-66016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:66005200-66022400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr7:66005800-66016800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:66006000-66020000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:66006000-66022200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:66006200-66019400	Strong transcription	Adipose Nuclei	Adipose
21	chr7:66006200-66021000	Strong transcription	Fetal Intestine Large	intestine
22	chr7:66006200-66022200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:66006200-66022400	Strong transcription	Lung	lung
24	chr7:66006200-66022600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:66006200-66024400	Strong transcription	Fetal Muscle Leg	muscle
26	chr7:66006200-66024400	Strong transcription	Thymus	Thymus
27	chr7:66006400-66022800	Strong transcription	Brain Germinal Matrix	brain
28	chr7:66006600-66022800	Weak transcription	Fetal Brain Male	brain
29	chr7:66007600-66021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:66008000-66016400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:66008000-66016600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:66008000-66017400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:66008200-66016400	Weak transcription	HMEC	breast
34	chr7:66008200-66016600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:66008200-66016600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:66008200-66017000	Weak transcription	NH-A	brain
37	chr7:66008200-66022000	Weak transcription	Right Atrium	heart
38	chr7:66008200-66022200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:66008400-66022600	Weak transcription	Fetal Heart	heart
40	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:66008800-66022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:66008800-66022400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:66008800-66022600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:66009000-66016600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:66009000-66016600	Strong transcription	NHLF	lung
46	chr7:66009000-66020200	Strong transcription	Fetal Thymus	thymus
47	chr7:66009000-66020600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:66009000-66022800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:66009000-66023000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:66009000-66031400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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