Variant report

Variant	rs12702530
Chromosome Location	chr7:6626212-6626213
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6614342..6622557-chr7:6625132..6631922,18	K562	blood:

Variant related genes	Relation type
ENSG00000136247	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10254630	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10254753	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10255168	1.00[ASN][1000 genomes]
rs10261986	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10273900	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10277061	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10282220	0.97[ASN][1000 genomes]
rs10951988	1.00[ASN][1000 genomes]
rs11559146	0.98[ASN][1000 genomes]
rs11762851	0.88[ASN][1000 genomes]
rs11763814	0.98[ASN][1000 genomes]
rs11763918	0.81[ASN][1000 genomes]
rs11770467	0.98[ASN][1000 genomes]
rs12538002	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12539700	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13226346	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13229391	0.96[ASN][1000 genomes]
rs13229523	0.96[ASN][1000 genomes]
rs13240710	0.90[ASN][1000 genomes]
rs28541711	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34060186	0.90[ASN][1000 genomes]
rs34566172	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813513	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075107	0.97[ASN][1000 genomes]
rs4272276	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512303	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56717970	0.97[ASN][1000 genomes]
rs60108089	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60742375	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62441317	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6949926	0.80[AFR][1000 genomes]
rs6963775	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6965187	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7357134	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7776724	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7790874	0.93[ASN][1000 genomes]
rs7792808	0.96[ASN][1000 genomes]
rs7793367	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800917	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7801415	1.00[ASN][1000 genomes]
rs7804036	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9640027	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	138 gene(s)	inside rSNPs	diseases
3	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
4	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
6	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12702530	ZDHHC4	cis	Esophagus Mucosa	GTEx
rs12702530	AC079742.4	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6617600-6629200	Weak transcription	Small Intestine	intestine
2	chr7:6617600-6629600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:6617600-6629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:6617600-6630000	Weak transcription	Stomach Mucosa	stomach
5	chr7:6617800-6629000	Weak transcription	Right Atrium	heart
6	chr7:6617800-6629200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:6618200-6626800	Strong transcription	Brain Hippocampus Middle	brain
8	chr7:6618200-6628800	Weak transcription	Fetal Brain Male	brain
9	chr7:6618200-6629000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:6618200-6629000	Strong transcription	Brain Cingulate Gyrus	brain
11	chr7:6618200-6629200	Strong transcription	Fetal Intestine Small	intestine
12	chr7:6618400-6628800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:6618400-6628800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr7:6618400-6629000	Strong transcription	Fetal Muscle Leg	muscle
15	chr7:6618400-6629000	Strong transcription	Fetal Thymus	thymus
16	chr7:6618600-6629000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:6618600-6629000	Strong transcription	Fetal Stomach	stomach
18	chr7:6618800-6628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:6618800-6628600	Strong transcription	Liver	Liver
20	chr7:6618800-6629000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:6619000-6626800	Strong transcription	Brain Anterior Caudate	brain
22	chr7:6619000-6627000	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr7:6619000-6628600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:6619200-6628800	Strong transcription	Fetal Intestine Large	intestine
25	chr7:6619200-6629000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:6619200-6629000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:6619600-6629000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:6619800-6626400	Strong transcription	Brain Germinal Matrix	brain
29	chr7:6619800-6627400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr7:6619800-6628600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:6619800-6628600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:6619800-6628800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:6619800-6628800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:6619800-6628800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:6619800-6629000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:6620000-6626400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:6620000-6626600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr7:6620000-6627200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:6620000-6627400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:6620000-6628400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:6620000-6628600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:6620000-6628800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:6620000-6628800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:6620000-6629000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:6620000-6629000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:6620000-6629000	Strong transcription	Placenta	Placenta
47	chr7:6620000-6629200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:6620200-6626400	Strong transcription	Brain Angular Gyrus	brain
49	chr7:6620200-6626600	Strong transcription	Osteobl	bone
50	chr7:6620200-6626800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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