Variant report

Variant	rs7794447
Chromosome Location	chr7:128172996-128172997
allele	G/T
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	POLR2A	chr7:128171777-128173028	PFSK-1	brain:	n/a	n/a
2	YY1	chr7:128172773-128173002	SK-N-SH_RA	brain:	n/a	chr7:128172951-128172968 chr7:128172952-128172968
3	POLR2A	chr7:128170942-128173044	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:128172820-128173019	ProgFib	skin:	n/a	n/a
5	YY1	chr7:128172835-128173063	K562	blood:	n/a	chr7:128172951-128172968 chr7:128172952-128172968
6	POLR2A	chr7:128172992-128173046	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:128172730-128173323	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr7:128172812-128173022	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:128169583-128173092	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128116465..128119803-chr7:128169321..128173196,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273270	TF binding region
ENSG00000242588	TF binding region
ENSG00000165055	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10242806	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10954205	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs11761662	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11768485	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs11770604	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12530672	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs339070	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs339079	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs339093	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4289745	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6467181	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6961754	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs6971819	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6976879	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs6977126	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs7790478	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs7804472	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs7810047	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs7811083	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3326672	chr7:128169741-128173589	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7794447	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs7794447	RP11-274B21.10	cis	Thyroid	GTEx
rs7794447	CICP14	cis	Thyroid	GTEx
rs7794447	CICP14	cis	lung	GTEx
rs7794447	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs7794447	CICP14	cis	Nerve Tibial	GTEx
rs7794447	METTL2B	cis	Artery Tibial	GTEx
rs7794447	CICP14	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128169200-128173000	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:128169600-128174200	Active TSS	Fetal Brain Female	brain
3	chr7:128169800-128173000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:128169800-128173200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:128169800-128173200	Active TSS	A549	lung
6	chr7:128169800-128173600	Active TSS	NHDF-Ad	bronchial
7	chr7:128169800-128173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:128169800-128174000	Active TSS	NHLF	lung
9	chr7:128170000-128173000	Active TSS	Brain Anterior Caudate	brain
10	chr7:128170000-128173200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:128170000-128173200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr7:128170000-128173200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:128170000-128173200	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr7:128170000-128173200	Active TSS	Osteobl	bone
15	chr7:128170000-128173400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:128170000-128173400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:128170000-128173400	Active TSS	Right Ventricle	heart
18	chr7:128170000-128173600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:128170000-128173600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:128170000-128173600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:128170000-128173600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:128170000-128173600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:128170000-128173600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:128170000-128173600	Active TSS	Brain Germinal Matrix	brain
25	chr7:128170000-128173600	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:128170000-128173600	Active TSS	HMEC	breast
27	chr7:128170200-128173000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:128170200-128173000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr7:128170200-128173200	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:128170200-128173200	Active TSS	Fetal Intestine Small	intestine
31	chr7:128170200-128173400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:128170200-128173400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:128170200-128173400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:128170200-128173600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:128170200-128173600	Active TSS	HSMM	muscle
36	chr7:128170200-128174000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:128170200-128174000	Active TSS	HSMMtube	muscle
38	chr7:128170400-128173000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:128170400-128173000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr7:128170400-128173000	Active TSS	Left Ventricle	heart
41	chr7:128170400-128173000	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr7:128170400-128173000	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr7:128170400-128173000	Active TSS	NHEK	skin
44	chr7:128170400-128173200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:128170400-128173200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr7:128170400-128173200	Active TSS	Hela-S3	cervix
47	chr7:128170400-128173200	Active TSS	HepG2	liver
48	chr7:128170400-128173400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:128170400-128173400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:128170400-128173400	Weak transcription	Fetal Heart	heart

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