Variant report

Variant	rs612972
Chromosome Location	chr7:129198538-129198539
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129165437..129168145-chr7:129197466..129199694,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10257409	0.95[ASN][1000 genomes]
rs1125056	0.97[ASN][1000 genomes]
rs11765308	0.94[ASN][1000 genomes]
rs11765389	0.94[ASN][1000 genomes]
rs11768713	0.94[ASN][1000 genomes]
rs12154955	1.00[CHB][hapmap]
rs12706898	1.00[CHB][hapmap]
rs13233863	1.00[CHB][hapmap]
rs13235012	0.84[ASN][1000 genomes]
rs13239330	0.87[ASN][1000 genomes]
rs1665111	0.81[ASN][1000 genomes]
rs2121265	0.87[ASN][1000 genomes]
rs2598178	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2896417	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34780485	0.84[ASN][1000 genomes]
rs4554407	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56052358	0.93[ASN][1000 genomes]
rs56178414	0.96[ASN][1000 genomes]
rs659495	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs875832	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3478069	chr7:129157163-129204221	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3478070	chr7:129157177-129204220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129186400-129201600	Weak transcription	Right Atrium	heart
2	chr7:129192800-129201600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:129193000-129200400	Weak transcription	Gastric	stomach
4	chr7:129197000-129200800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:129197600-129198600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:129197800-129198600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:129198000-129198600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:129198000-129198600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:129198000-129199400	Enhancers	K562	blood
10	chr7:129198200-129198600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr7:129198200-129198600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:129198200-129198600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:129198200-129198600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:129198200-129198600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:129198200-129198600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:129198200-129198600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:129198200-129198600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:129198200-129198600	Active TSS	Brain Anterior Caudate	brain
19	chr7:129198200-129198800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:129198400-129198600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:129198400-129198600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr7:129198400-129201400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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