Variant report

Variant	rs11574435
Chromosome Location	chr3:46447972-46447973
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	RCOR1	chr3:46447943-46449285	K562	blood:	n/a	n/a
2	POLR2A	chr3:46447845-46449340	HUVEC	blood vessel:	n/a	n/a
3	NR2F2	chr3:46447587-46449528	K562	blood:	n/a	n/a
4	ZMIZ1	chr3:46447909-46449216	K562	blood:	n/a	n/a
5	JUND	chr3:46447939-46449611	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
6	HCFC1	chr3:46447908-46449155	K562	blood:	n/a	n/a
7	ZNF384	chr3:46447882-46448183	K562	blood:	n/a	n/a
8	JUN	chr3:46447954-46449187	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
9	JUN	chr3:46447534-46450045	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
10	MAZ	chr3:46447949-46449170	K562	blood:	n/a	chr3:46448153-46448162 chr3:46448021-46448031
11	RCOR1	chr3:46447812-46449272	K562	blood:	n/a	n/a
12	TEAD4	chr3:46447793-46449710	K562	blood:	n/a	n/a
13	FOS	chr3:46447957-46449222	HUVEC	blood vessel:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163

No.	Distal block	Cell Line	Cell type
1	chr3:46447015..46450131-chr3:46450692..46453311,4	K562	blood:
2	chr3:46036059..46037983-chr3:46447594..46449867,2	K562	blood:
3	chr3:46441114..46442760-chr3:46445695..46448198,2	MCF-7	breast:

Variant related genes	Relation type
CCRL2	TF binding region
ENSG00000163820	Chromatin interaction
ENSG00000121797	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1140865	0.84[EUR][1000 genomes]
rs11574428	0.84[EUR][1000 genomes]
rs11574429	0.84[EUR][1000 genomes]
rs11574434	0.84[EUR][1000 genomes]
rs11575821	0.81[EUR][1000 genomes]
rs2157061	0.84[EUR][1000 genomes]
rs2157062	0.83[EUR][1000 genomes]
rs2856758	0.82[EUR][1000 genomes]
rs3092960	1.00[AFR][1000 genomes]
rs3136535	0.84[EUR][1000 genomes]
rs34445878	0.81[EUR][1000 genomes]
rs41490645	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6770674	0.84[EUR][1000 genomes]
rs6782522	0.84[EUR][1000 genomes]
rs6787972	0.83[EUR][1000 genomes]
rs6791789	0.84[EUR][1000 genomes]
rs6798291	0.84[EUR][1000 genomes]
rs6808835	0.84[EUR][1000 genomes]
rs7652037	0.81[EUR][1000 genomes]
rs916094	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46428000-46448400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:46439200-46448200	Weak transcription	Left Ventricle	heart
4	chr3:46439600-46448400	Weak transcription	Psoas Muscle	Psoas
5	chr3:46442400-46448400	Weak transcription	HSMMtube	muscle
6	chr3:46442600-46448200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:46443200-46448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:46445000-46448200	Enhancers	Fetal Intestine Large	intestine
9	chr3:46445000-46448600	Enhancers	Fetal Intestine Small	intestine
10	chr3:46445000-46450000	Enhancers	Spleen	Spleen
11	chr3:46445800-46448600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:46446000-46448600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:46446200-46448200	Enhancers	K562	blood
14	chr3:46446200-46448400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:46446200-46448600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:46446200-46448600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr3:46446200-46448600	Enhancers	Right Atrium	heart
18	chr3:46446200-46450200	Enhancers	Fetal Lung	lung
19	chr3:46446400-46448600	Enhancers	Primary B cells from cord blood	blood
20	chr3:46446400-46448600	Enhancers	Placenta	Placenta
21	chr3:46446400-46448600	Enhancers	HUVEC	blood vessel
22	chr3:46446400-46448800	Enhancers	Primary hematopoietic stem cells	blood
23	chr3:46446400-46448800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr3:46446600-46448600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr3:46446600-46448600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr3:46446800-46448000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:46446800-46448200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:46446800-46448200	Enhancers	Hela-S3	cervix
29	chr3:46446800-46448400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:46446800-46448400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:46446800-46448600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:46446800-46448600	Enhancers	NHLF	lung
33	chr3:46446800-46449000	Enhancers	Pancreas	Pancrea
34	chr3:46446800-46450600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:46447000-46448000	Weak transcription	Fetal Kidney	kidney
36	chr3:46447000-46448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:46447000-46448600	Enhancers	Primary B cells from peripheral blood	blood
38	chr3:46447000-46448600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:46447000-46448600	Enhancers	Gastric	stomach
40	chr3:46447000-46448600	Enhancers	NHDF-Ad	bronchial
41	chr3:46447200-46448000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:46447200-46448200	Enhancers	Stomach Mucosa	stomach
43	chr3:46447200-46448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:46447200-46448400	Weak transcription	Fetal Heart	heart
45	chr3:46447200-46448400	Enhancers	HSMM	muscle
46	chr3:46447200-46448400	Enhancers	Osteobl	bone
47	chr3:46447200-46448600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:46447200-46448600	Enhancers	Fetal Stomach	stomach
49	chr3:46447200-46449800	Enhancers	Fetal Muscle Trunk	muscle
50	chr3:46447400-46448000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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