Variant report

Variant	rs7604967
Chromosome Location	chr2:11020995-11020996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11017361..11019495-chr2:11019645..11021642,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092687.4.1-1	chr2:11020216-11021099	NONHSAT069133
2	lnc-AC092687.4.1-1	chr2:11020216-11021099	FPKM1_group_15225_transcript_1
3	lnc-AC092687.4.1-1	chr2:11020690-11021002	FPKM1_group_15225_transcript_1

Variant related genes	Relation type
ENSG00000271952	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13022515	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16856827	0.82[ASN][1000 genomes]
rs16856834	0.83[ASN][1000 genomes]
rs34847637	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35893784	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4669639	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55833058	0.83[ASN][1000 genomes]
rs55973139	0.83[ASN][1000 genomes]
rs56132627	0.83[ASN][1000 genomes]
rs56217031	0.83[ASN][1000 genomes]
rs57342819	0.83[ASN][1000 genomes]
rs57661162	0.83[ASN][1000 genomes]
rs60910073	0.83[ASN][1000 genomes]
rs66646564	0.83[ASN][1000 genomes]
rs6718715	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6725242	0.83[ASN][1000 genomes]
rs72781439	0.83[ASN][1000 genomes]
rs72781440	0.83[ASN][1000 genomes]
rs7562138	0.83[ASN][1000 genomes]
rs7562351	0.83[ASN][1000 genomes]
rs7565294	0.83[ASN][1000 genomes]
rs7568397	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7572213	0.83[ASN][1000 genomes]
rs7576044	0.83[ASN][1000 genomes]
rs7576288	0.84[ASN][1000 genomes]
rs7587715	0.83[ASN][1000 genomes]
rs7587949	0.83[ASN][1000 genomes]
rs7603455	0.85[ASN][1000 genomes]
rs7604563	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7604815	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv438181	chr2:11020993-11021955	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7604967	RP11-245G13.2	cis	Whole Blood	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11011800-11023600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:11013200-11023800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:11015600-11023600	Weak transcription	Right Atrium	heart
4	chr2:11018000-11023000	Weak transcription	A549	lung
5	chr2:11018200-11023400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:11018200-11023600	Weak transcription	Fetal Thymus	thymus
7	chr2:11018400-11023800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:11018400-11034600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:11018600-11023200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:11018600-11023600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:11018800-11023200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:11018800-11023600	Weak transcription	Right Ventricle	heart
13	chr2:11018800-11024200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:11019000-11022600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:11019600-11022600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:11019600-11023200	Weak transcription	Left Ventricle	heart
17	chr2:11020000-11023200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:11020600-11021000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:11020600-11021000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:11020600-11021000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:11020600-11021200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:11020600-11021200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr2:11020600-11021800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:11020600-11021800	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:11020800-11021000	Bivalent Enhancer	HepG2	liver
26	chr2:11020800-11021200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:11020800-11021200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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