Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39573042..39574543-chr7:39580412..39582259,2	K562	blood:
2	chr7:39567068..39569157-chr7:39570895..39573557,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13240294	0.83[JPT][hapmap]
rs17687693	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2288743	0.84[GIH][hapmap]
rs2329402	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2329404	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2329405	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2329407	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2329408	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2876843	0.83[EUR][1000 genomes]
rs2876856	0.80[CEU][hapmap];0.84[GIH][hapmap]
rs4599720	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4720325	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4723875	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4723877	0.80[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6462926	0.82[ASN][1000 genomes]
rs6462928	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6967653	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6968234	0.91[EUR][1000 genomes]
rs7784744	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7805163	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9639813	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9770075	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv966782	chr7:39454992-39581886	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2876855	AMPH	cis	parietal	SCAN
rs2876855	RBBP5	trans	cerebellum	SCAN
rs2876855	PSMA2	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39568200-39576400	Enhancers	Fetal Intestine Large	intestine
2	chr7:39568400-39576400	Enhancers	Fetal Intestine Small	intestine
3	chr7:39569600-39579600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:39570200-39573800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:39570200-39579400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:39570400-39574200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:39570400-39577200	Weak transcription	Fetal Brain Male	brain
8	chr7:39570400-39579600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:39570600-39573400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:39570600-39574000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:39570600-39579400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:39570800-39579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:39570800-39579400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:39570800-39579600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:39571200-39573400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:39571200-39576200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:39573000-39574000	Weak transcription	Stomach Mucosa	stomach
18	chr7:39573200-39573600	Enhancers	Small Intestine	intestine

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