Variant report

Variant	rs6944602
Chromosome Location	chr7:50473751-50473752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50473414..50475429-chr7:50484863..50486654,2	K562	blood:
2	chr7:50473369..50477129-chr7:50477815..50481019,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1002371	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10215297	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10216316	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10235371	0.83[CHD][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap]
rs11575544	0.83[CHD][hapmap]
rs11575575	1.00[CHB][hapmap];0.83[CHD][hapmap];0.80[MKK][hapmap]
rs11980407	1.00[JPT][hapmap]
rs28573146	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4947396	1.00[YRI][hapmap]
rs55981617	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56156635	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61731355	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62445869	0.84[AMR][1000 genomes]
rs62447207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447208	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944650	1.00[CHB][hapmap]
rs6952409	0.96[AMR][1000 genomes];0.98[EUR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6944602	IKZF1	cis	multi-tissue	Pritchard
rs6944602	FIGNL1	cis	parietal	SCAN
rs6944602	ZPBP	cis	cerebellum	SCAN
rs6944602	FIGNL1	cis	cerebellum	SCAN
rs6944602	ZNFN1A1	cis	multi-tissue	Pritchard

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50464400-50474400	Strong transcription	Thymus	Thymus
2	chr7:50466400-50474600	Weak transcription	K562	blood
3	chr7:50467000-50477200	Weak transcription	Colonic Mucosa	Colon
4	chr7:50468200-50479800	Weak transcription	Gastric	stomach
5	chr7:50469000-50476800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:50469000-50480600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:50470600-50485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:50470800-50477400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:50471200-50474200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:50471400-50474400	Genic enhancers	Primary B cells from cord blood	blood
11	chr7:50471400-50474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:50472200-50474000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:50472200-50474600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:50472200-50483800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:50472400-50474000	Genic enhancers	Fetal Thymus	thymus
16	chr7:50472400-50486400	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:50472600-50475400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:50472600-50477400	Weak transcription	Dnd41	blood
19	chr7:50472600-50479000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:50472800-50475000	Enhancers	Spleen	Spleen
21	chr7:50473000-50473800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:50473000-50475000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr7:50473000-50475800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:50473200-50474000	Bivalent Enhancer	Placenta	Placenta
25	chr7:50473200-50474200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:50473200-50474400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:50473200-50475400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:50473200-50477000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:50473400-50474400	Weak transcription	Primary T cells from cord blood	blood
30	chr7:50473400-50476000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:50473400-50476200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:50473400-50477600	Enhancers	GM12878-XiMat	blood
33	chr7:50473600-50475000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:50473600-50476600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:50473600-50477400	Enhancers	Monocytes-CD14+_RO01746	blood

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