Variant report

Variant	rs12061312
Chromosome Location	chr1:158026539-158026540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10796995	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1005196	chr1:158015996-158065522	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv523208	chr1:158022217-158088687	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv526592	chr1:158024499-158026539	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1003592	chr1:158024499-158061043	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12061312	S100A7A	cis	parietal	SCAN
rs12061312	S100A3	cis	parietal	SCAN
rs12061312	S100A14	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
3	chr1:158013800-158027000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:158015200-158036400	Weak transcription	Esophagus	oesophagus
5	chr1:158015600-158029800	Weak transcription	Gastric	stomach
6	chr1:158016200-158030200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:158016600-158028400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:158016800-158028000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:158016800-158028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:158016800-158029200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:158020200-158028400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:158020200-158034800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:158021800-158026600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:158022800-158029000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:158023400-158035400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:158023600-158026800	Weak transcription	HSMM	muscle
17	chr1:158023600-158035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:158023600-158036600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:158023600-158036800	Weak transcription	NH-A	brain
20	chr1:158023600-158048800	Weak transcription	A549	lung
21	chr1:158023800-158028000	Weak transcription	NHDF-Ad	bronchial
22	chr1:158023800-158033400	Weak transcription	HSMMtube	muscle
23	chr1:158024200-158027000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:158024200-158027800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:158024200-158029800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:158024200-158030200	Strong transcription	HMEC	breast
27	chr1:158024400-158027800	Strong transcription	Osteobl	bone
28	chr1:158024400-158033800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:158024600-158027000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:158024600-158027400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:158024600-158032000	Enhancers	Placenta	Placenta
32	chr1:158024800-158026800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:158024800-158027200	Genic enhancers	Fetal Muscle Leg	muscle
34	chr1:158024800-158029200	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr1:158024800-158030200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:158025000-158027000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:158025000-158027000	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:158025000-158028600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:158025000-158029200	Weak transcription	Fetal Intestine Large	intestine
40	chr1:158025000-158030600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:158025000-158031400	Enhancers	Fetal Lung	lung
42	chr1:158025000-158031800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:158025000-158033800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:158025200-158027600	Enhancers	Fetal Heart	heart
45	chr1:158025200-158027800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:158025200-158028000	Strong transcription	NHLF	lung
47	chr1:158025200-158028200	Enhancers	HUVEC	blood vessel
48	chr1:158025200-158029200	Enhancers	Ovary	ovary
49	chr1:158025400-158026800	Enhancers	Fetal Brain Male	brain
50	chr1:158025400-158027000	Enhancers	Fetal Brain Female	brain

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