Variant report

Variant	rs7790478
Chromosome Location	chr7:128348405-128348406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:128348248-128349208	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr7:128348251-128348667	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128346237..128350299-chr7:128378242..128382310,4	K562	blood:
2	chr7:128346113..128353140-chr7:128377714..128381349,8	K562	blood:

Variant related genes	Relation type
FAM71F1	TF binding region
ENSG00000128595	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10224862	1.00[ASN][1000 genomes]
rs10242806	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10274878	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10276810	0.95[ASN][1000 genomes]
rs10954205	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs11761312	1.00[ASN][1000 genomes]
rs11768485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12535238	1.00[ASN][1000 genomes]
rs12536288	0.89[ASN][1000 genomes]
rs12706858	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233377	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13237593	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs339070	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs339071	1.00[ASN][1000 genomes]
rs339074	1.00[ASN][1000 genomes]
rs339079	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs339093	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34757247	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34942906	0.88[AMR][1000 genomes]
rs34960471	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35603038	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35825132	0.90[ASN][1000 genomes]
rs3816421	0.89[ASN][1000 genomes]
rs4289745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6467181	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6943737	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6946179	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6960296	0.89[ASN][1000 genomes]
rs6961754	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6971819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6972787	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6976879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6977126	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs71546790	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71548762	1.00[ASN][1000 genomes]
rs7778731	0.81[ASN][1000 genomes]
rs7787764	0.89[ASN][1000 genomes]
rs7794447	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs7804472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7810047	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7811083	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[ASN][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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking 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	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7790478	CICP14	cis	Muscle Skeletal	GTEx
rs7790478	CICP14	cis	Nerve Tibial	GTEx
rs7790478	KLF14	cis	parietal	SCAN
rs7790478	CICP14	cis	Thyroid	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128338600-128349000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128344000-128349000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:128344200-128348600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:128344400-128348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:128345200-128350200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:128345200-128350200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:128345400-128348600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:128345400-128348600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:128345400-128348800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:128346000-128349000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:128346200-128350400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:128346400-128350200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:128346400-128350200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:128346400-128350200	Weak transcription	NHEK	skin
16	chr7:128346400-128353400	Weak transcription	HMEC	breast
17	chr7:128346400-128354000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:128346600-128353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:128346800-128348600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:128347000-128348600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:128348000-128348600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:128348200-128349800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:128348400-128348800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:128348400-128349600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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