Variant report

Variant	rs10929745
Chromosome Location	chr2:11607198-11607199
allele	C/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	RFX5	chr2:11605223-11608297	SK-N-SH	brain:	n/a	n/a
2	FOXA1	chr2:11607023-11607201	T-47D	breast:	n/a	n/a
3	JUN	chr2:11605303-11607477	K562	blood:	n/a	chr2:11606362-11606376 chr2:11605517-11605531
4	FOXA1	chr2:11606831-11607253	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:11606892-11607415	HepG2	liver:	n/a	n/a
6	MAX	chr2:11607047-11607231	GM12878	blood:	n/a	n/a
7	MXI1	chr2:11605176-11607648	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr2:11605472-11607233	SK-N-MC	brain:	n/a	n/a
9	MAX	chr2:11605300-11607301	HepG2	liver:	n/a	chr2:11605840-11605850
10	HCFC1	chr2:11605406-11607416	Hela-S3	cervix:	n/a	n/a
11	HCFC1	chr2:11606842-11607282	K562	blood:	n/a	n/a
12	FOXA2	chr2:11606851-11607225	A549	lung:	n/a	n/a
13	SP1	chr2:11606104-11607312	HCT-116	colon:	n/a	chr2:11606408-11606419
14	SP1	chr2:11605391-11607213	HCT-116	colon:	n/a	chr2:11606408-11606419 chr2:11605835-11605849
15	MAX	chr2:11605313-11607250	HCT-116	colon:	n/a	chr2:11605840-11605850
16	JUND	chr2:11605518-11607207	HCT-116	colon:	n/a	chr2:11606362-11606376
17	FOXA2	chr2:11606960-11607501	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
2	chr2:11604833..11608003-chr2:11882353..11886330,4	K562	blood:

Variant related genes	Relation type
E2F6	TF binding region
ENSG00000162976	Chromatin interaction
ENSG00000230790	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10192676	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10803737	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10929741	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10929746	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929747	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929748	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929749	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685543	0.86[ASN][1000 genomes]
rs12988106	0.86[ASN][1000 genomes]
rs13028340	0.94[EUR][1000 genomes]
rs1369500	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1369501	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1369502	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1369503	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34075853	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35047869	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35160324	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35606161	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35734540	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818376	0.86[ASN][1000 genomes]
rs35973068	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4491705	0.92[ASN][1000 genomes]
rs60323348	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60819231	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432195	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6432197	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432198	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432201	0.93[EUR][1000 genomes]
rs6705284	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714698	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719876	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724082	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724463	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753836	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565965	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577942	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11604600-11607200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:11604800-11607200	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:11605000-11607200	Active TSS	Rectal Smooth Muscle	rectum
4	chr2:11605400-11607400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:11605600-11607200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:11605800-11607200	Active TSS	Colonic Mucosa	Colon
7	chr2:11605800-11607400	Active TSS	Duodenum Mucosa	Duodenum
8	chr2:11606600-11607200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:11606600-11607200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr2:11606600-11607200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr2:11606600-11607200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr2:11606600-11607200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr2:11606600-11607200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:11606600-11607200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:11606600-11607200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:11606600-11607200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr2:11606600-11607200	Enhancers	Fetal Heart	heart
18	chr2:11606600-11607200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr2:11606600-11607200	Flanking Active TSS	Thymus	Thymus
20	chr2:11606600-11607200	Flanking Active TSS	Osteobl	bone
21	chr2:11606600-11607400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:11606600-11607400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr2:11606600-11607400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr2:11606800-11607200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr2:11606800-11607200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:11606800-11607200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr2:11606800-11607200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:11606800-11607200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr2:11606800-11607200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr2:11606800-11607200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:11606800-11607200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:11606800-11607200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:11606800-11607200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:11606800-11607200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr2:11606800-11607200	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr2:11606800-11607200	Flanking Active TSS	Gastric	stomach
37	chr2:11606800-11607200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:11606800-11607200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr2:11606800-11607200	Enhancers	Small Intestine	intestine
40	chr2:11606800-11607400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:11606800-11607400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr2:11606800-11607400	Flanking Active TSS	Dnd41	blood
43	chr2:11606800-11607400	Flanking Active TSS	GM12878-XiMat	blood
44	chr2:11606800-11607400	Flanking Active TSS	HUVEC	blood vessel
45	chr2:11606800-11607400	Flanking Active TSS	K562	blood
46	chr2:11607000-11607200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:11607000-11607200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:11607000-11607200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr2:11607000-11607200	Enhancers	Primary B cells from cord blood	blood
50	chr2:11607000-11607200	Enhancers	Primary hematopoietic stem cells	blood

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