Variant report

Variant	rs1860981
Chromosome Location	chr4:27008524-27008525
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	MAZ	chr4:27008320-27008637	GM12878	blood:	n/a	n/a
2	SPI1	chr4:27008378-27008589	GM12891	blood:	n/a	chr4:27008518-27008531

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:27002739..27005621-chr4:27005771..27008805,3	K562	blood:

Variant related genes	Relation type
STIM2	TF binding region
ENSG00000109689	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10028164	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10031905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1035075	1.00[EUR][1000 genomes]
rs2192241	1.00[EUR][1000 genomes]
rs2309497	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28489605	1.00[EUR][1000 genomes]
rs4129747	1.00[EUR][1000 genomes]
rs4140681	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4599399	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692016	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692017	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692018	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4692138	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55646519	1.00[EUR][1000 genomes]
rs56001106	1.00[EUR][1000 genomes]
rs56810203	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668778	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57810647	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59530500	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59678983	1.00[EUR][1000 genomes]
rs61084398	1.00[EUR][1000 genomes]
rs6448490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6841079	1.00[EUR][1000 genomes]
rs6858361	1.00[EUR][1000 genomes]
rs73116642	1.00[EUR][1000 genomes]
rs73116643	1.00[EUR][1000 genomes]
rs73116645	1.00[EUR][1000 genomes]
rs73116652	1.00[EUR][1000 genomes]
rs73116653	1.00[EUR][1000 genomes]
rs73116655	1.00[EUR][1000 genomes]
rs73116657	1.00[EUR][1000 genomes]
rs73116660	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116665	1.00[EUR][1000 genomes]
rs73116670	1.00[EUR][1000 genomes]
rs73116672	1.00[EUR][1000 genomes]
rs73116675	1.00[EUR][1000 genomes]
rs7670520	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7688601	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887792	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887794	1.00[EUR][1000 genomes]
rs9790760	0.81[AMR][1000 genomes];1.00[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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26978400-27019200	Weak transcription	Fetal Intestine Small	intestine
2	chr4:26980400-27019400	Weak transcription	Left Ventricle	heart
3	chr4:26985400-27019400	Weak transcription	Esophagus	oesophagus
4	chr4:26989000-27010000	Weak transcription	Thymus	Thymus
5	chr4:26989000-27010400	Weak transcription	Fetal Thymus	thymus
6	chr4:26989400-27024800	Weak transcription	Psoas Muscle	Psoas
7	chr4:26989600-27027000	Weak transcription	HepG2	liver
8	chr4:26994800-27011000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:26995000-27019000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:26995000-27028200	Weak transcription	Pancreas	Pancrea
11	chr4:26995400-27009800	Weak transcription	Adipose Nuclei	Adipose
12	chr4:26996200-27015400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:26996400-27026200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:26996600-27011800	Weak transcription	Brain Anterior Caudate	brain
15	chr4:26996600-27018400	Weak transcription	Fetal Intestine Large	intestine
16	chr4:26996600-27019200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:26996800-27019200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:26997400-27019200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:27001200-27029600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:27001600-27019000	Weak transcription	Spleen	Spleen
21	chr4:27002000-27019200	Weak transcription	Lung	lung
22	chr4:27002000-27019200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:27002200-27013000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:27002600-27011200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:27002800-27011800	Weak transcription	Stomach Mucosa	stomach
26	chr4:27002800-27026000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:27003400-27011600	Strong transcription	Primary B cells from cord blood	blood
28	chr4:27004000-27011000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:27004200-27027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:27004800-27025000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:27005000-27011000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:27005000-27018000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:27005000-27019400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:27005400-27011800	Enhancers	Osteobl	bone
35	chr4:27005400-27017600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:27005600-27010400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:27005600-27012000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:27005600-27013400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:27005600-27019200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:27005600-27019600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:27005600-27021800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:27005800-27009800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:27005800-27010400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:27005800-27010400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:27005800-27011000	Weak transcription	GM12878-XiMat	blood
46	chr4:27005800-27019400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:27005800-27019400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:27005800-27019400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr4:27006000-27008800	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:27006000-27010200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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