Variant report

Variant	rs10190324
Chromosome Location	chr2:101171201-101171202
allele	C/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	SPI1	chr2:101171179-101171699	GM12878	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
2	CTCF	chr2:101171180-101171330	GM12871	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101170496..101172300-chr2:101184687..101186587,2	K562	blood:
2	chr2:101168787..101171601-chr2:101616547..101618990,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST10-3	chr2:101171136-101171222	l_1898_chr2:101168990-101174253_ovary

Variant related genes	Relation type
RN7SL611P	TF binding region
ENSG00000223947	Chromatin interaction
ENSG00000115539	Chromatin interaction
ENSG00000071082	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10178491	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200086	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1052117	1.00[ASN][1000 genomes]
rs1114285	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11681805	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11691661	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469332	0.82[ASN][1000 genomes]
rs13393125	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1401753	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1533655	0.82[ASN][1000 genomes]
rs2971007	1.00[ASN][1000 genomes]
rs4850940	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851335	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851337	1.00[ASN][1000 genomes]
rs4851338	1.00[ASN][1000 genomes]
rs58420974	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61370232	1.00[ASN][1000 genomes]
rs62155213	1.00[ASN][1000 genomes]
rs66689046	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67061569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739992	1.00[ASN][1000 genomes]
rs6747613	1.00[ASN][1000 genomes]
rs6748900	1.00[ASN][1000 genomes]
rs6753993	1.00[ASN][1000 genomes]
rs7557603	1.00[ASN][1000 genomes]
rs7560366	1.00[ASN][1000 genomes]
rs7594904	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv961700	chr2:101160858-101173899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	esv2762269	chr2:101163732-101173190	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101170600-101171400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:101170800-101171400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr2:101170800-101172000	Enhancers	Primary T cells from cord blood	blood
4	chr2:101170800-101172000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:101170800-101173400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:101171000-101171600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:101171000-101171600	Enhancers	Spleen	Spleen
8	chr2:101171000-101172000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:101171200-101171400	Bivalent Enhancer	Placenta	Placenta
10	chr2:101171200-101171600	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:101171200-101171600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:101171200-101171600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:101171200-101171600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:101171200-101171600	Enhancers	Fetal Thymus	thymus
15	chr2:101171200-101171600	Enhancers	Dnd41	blood
16	chr2:101171200-101171600	Enhancers	GM12878-XiMat	blood
17	chr2:101171200-101171600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:101171200-101171800	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:101171200-101171800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr2:101171200-101171800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr2:101171200-101171800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr2:101171200-101171800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr2:101171200-101171800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:101171200-101172000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:101171200-101172000	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:101171200-101172000	Enhancers	K562	blood
27	chr2:101171200-101174000	Enhancers	Primary monocytes fromperipheralblood	blood

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