Variant report

Variant	rs1796212
Chromosome Location	chr7:66131996-66131997
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66127237..66129875-chr7:66131480..66133745,3	K562	blood:
2	chr7:66118854..66122954-chr7:66127904..66133734,8	K562	blood:
3	chr7:66117974..66122051-chr7:66130047..66133734,5	K562	blood:
4	chr7:66130351..66133208-chr7:66135142..66136772,2	K562	blood:
5	chr6:27100755..27103538-chr7:66129131..66132077,2	K562	blood:

Variant related genes	Relation type
ENSG00000196787	Chromatin interaction
ENSG00000226824	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10950047	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763224	0.84[EUR][1000 genomes]
rs11766583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12666079	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12667394	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1267814	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13311962	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1638724	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1638725	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1638728	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1638732	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1638735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796217	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796218	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796222	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1796226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1860471	0.82[ASN][1000 genomes]
rs1862085	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1922722	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2052089	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420612	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2533282	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2533283	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2707851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28425729	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28817617	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2901267	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3735147	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs4718364	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4718385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6460311	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947441	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6950988	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6961853	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6966953	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6970767	0.91[EUR][1000 genomes]
rs6979167	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73139927	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73152714	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73377549	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73377594	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs801199	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs801210	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801212	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801213	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs964971	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes];0.91[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	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv967445	chr7:66112743-66133589	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1796212	GS1-124K5.4	cis	Artery Aorta	GTEx
rs1796212	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs1796212	GS1-124K5.11	cis	Thyroid	GTEx
rs1796212	GTF2IRD1P1	cis	Thyroid	GTEx
rs1796212	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs1796212	GS1-124K5.4	cis	Stomach	GTEx
rs1796212	RNU6-96P	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66120600-66132400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:66120600-66146000	Weak transcription	Primary T cells from cord blood	blood
3	chr7:66120600-66146200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:66120800-66132000	Weak transcription	Fetal Brain Female	brain
5	chr7:66120800-66143600	Weak transcription	GM12878-XiMat	blood
6	chr7:66120800-66146000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:66121000-66139400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:66121000-66143600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:66121000-66144000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:66121000-66146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:66121000-66146200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:66121200-66137800	Weak transcription	HMEC	breast
13	chr7:66121400-66139800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:66121400-66146000	Weak transcription	Adipose Nuclei	Adipose
15	chr7:66121400-66146000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:66121600-66132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:66121600-66133200	Weak transcription	Osteobl	bone
18	chr7:66121600-66133400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:66121600-66133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:66121600-66133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:66121600-66133400	Weak transcription	NHEK	skin
22	chr7:66121600-66133400	Weak transcription	NHLF	lung
23	chr7:66121600-66137800	Weak transcription	NH-A	brain
24	chr7:66121600-66144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:66121600-66145400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:66121600-66146200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:66121600-66146200	Weak transcription	HSMMtube	muscle
28	chr7:66121800-66134600	Weak transcription	Ovary	ovary
29	chr7:66121800-66144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:66122200-66138200	Weak transcription	NHDF-Ad	bronchial
31	chr7:66122400-66133400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:66122400-66134400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:66122600-66146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:66127800-66132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:66127800-66135800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:66127800-66136800	Weak transcription	Hela-S3	cervix
37	chr7:66127800-66146000	Weak transcription	A549	lung
38	chr7:66128000-66132000	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:66128000-66132400	Weak transcription	Placenta	Placenta
40	chr7:66128000-66133200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:66128000-66133200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:66128000-66133200	Weak transcription	HepG2	liver
43	chr7:66128000-66133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:66128000-66133400	Weak transcription	Esophagus	oesophagus
45	chr7:66128000-66133400	Weak transcription	Gastric	stomach
46	chr7:66128000-66133400	Weak transcription	Dnd41	blood
47	chr7:66128000-66135800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:66128000-66136200	Weak transcription	K562	blood
49	chr7:66128000-66138400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:66128000-66144000	Weak transcription	Pancreas	Pancrea

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