Variant report

Variant	rs4846194
Chromosome Location	chr1:9746612-9746613
allele	A/G
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	MXI1	chr1:9746551-9748449	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9712578..9717626-chr1:9745796..9749976,6	K562	blood:
2	chr1:9746141..9751802-chr1:9775034..9783332,13	K562	blood:

Variant related genes	Relation type
PIK3CD	TF binding region
ENSG00000171608	Chromatin interaction
ENSG00000179840	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4240910	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4333853	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4420084	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4488033	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4601595	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4846192	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56338585	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6660363	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6669509	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9430635	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9430636	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9430640	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9430641	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9430648	0.90[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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9713200-9747200	Weak transcription	Pancreas	Pancrea
2	chr1:9729600-9746800	Weak transcription	Thymus	Thymus
3	chr1:9737400-9747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:9737400-9747200	Weak transcription	Right Atrium	heart
5	chr1:9739000-9747200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:9739800-9747000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:9739800-9747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:9740400-9747200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:9741800-9747200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:9741800-9747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:9742000-9746800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:9742000-9747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:9742200-9746800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:9742200-9746800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:9742200-9747000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:9742800-9747000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:9743000-9747000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:9743800-9747000	Enhancers	Primary T cells from cord blood	blood
19	chr1:9743800-9747200	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:9744200-9746800	Weak transcription	Fetal Thymus	thymus
21	chr1:9744200-9747200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:9744200-9747200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:9744400-9747200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:9744600-9747000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:9744800-9747000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:9744800-9747000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:9745000-9747000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:9745200-9746800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:9745200-9746800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:9745600-9747000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:9745600-9747200	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr1:9745800-9746800	Enhancers	K562	blood
33	chr1:9745800-9747000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:9745800-9747000	Enhancers	NHEK	skin
35	chr1:9745800-9747200	Strong transcription	Dnd41	blood
36	chr1:9746000-9746800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:9746000-9746800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:9746000-9746800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:9746000-9747000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:9746000-9747000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:9746000-9748200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr1:9746200-9746800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:9746200-9746800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:9746200-9746800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:9746200-9747200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:9746400-9746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:9746400-9746800	Enhancers	GM12878-XiMat	blood
48	chr1:9746400-9747000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:9746400-9747000	Enhancers	Primary B cells from cord blood	blood
50	chr1:9746400-9747000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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