Variant report

Variant	rs1530043
Chromosome Location	chr4:166253554-166253555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166247350..166249646-chr4:166252211..166254955,3	K562	blood:
2	chr4:166128063..166130150-chr4:166253441..166255571,2	MCF-7	breast:
3	chr4:166052513..166053098-chr4:166253247..166253941,2	K562	blood:
4	chr4:166247158..166249683-chr4:166253375..166256427,3	MCF-7	breast:
5	chr4:166252660..166255076-chr4:166256139..166259452,3	K562	blood:

Variant related genes	Relation type
ENSG00000170088	Chromatin interaction
ENSG00000109466	Chromatin interaction
ENSG00000052802	Chromatin interaction

rs_ID	r²[population]
rs10517833	1.00[CHB][hapmap]
rs11726415	1.00[CHB][hapmap]
rs17046216	1.00[CHB][hapmap]
rs17488289	1.00[CHB][hapmap]
rs17488436	1.00[CHB][hapmap]
rs17488534	1.00[CHB][hapmap]
rs17488569	1.00[CHB][hapmap]
rs17585396	1.00[CHB][hapmap]
rs17585550	1.00[CHB][hapmap]
rs1818471	1.00[CHB][hapmap]
rs28678592	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4588420	1.00[CHB][hapmap]
rs934815	0.86[ASN][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166247800-166253600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:166248000-166253600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:166249600-166254000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:166249600-166254000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr4:166249600-166266600	Weak transcription	Left Ventricle	heart
6	chr4:166249800-166255000	Weak transcription	Placenta	Placenta
7	chr4:166249800-166262400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:166249800-166262600	Weak transcription	Thymus	Thymus
9	chr4:166250000-166253600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:166250000-166254600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:166250000-166264600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:166250200-166254000	Enhancers	Fetal Lung	lung
13	chr4:166250200-166254000	Transcr. at gene 5' and 3'	K562	blood
14	chr4:166250200-166259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:166250200-166260400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:166250200-166260800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:166250200-166262600	Weak transcription	Spleen	Spleen
18	chr4:166250200-166262800	Weak transcription	Right Ventricle	heart
19	chr4:166250200-166263800	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:166250200-166265000	Weak transcription	Psoas Muscle	Psoas
21	chr4:166250200-166265200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:166250400-166254000	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr4:166250400-166255000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:166250400-166255000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:166250400-166255200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:166250400-166255400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:166250400-166255800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:166250400-166256000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:166250400-166259600	Weak transcription	Fetal Kidney	kidney
30	chr4:166250400-166260800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:166250400-166260800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:166250400-166262600	Weak transcription	Aorta	Aorta
33	chr4:166250600-166253600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:166250600-166254000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:166250600-166254600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:166250600-166255000	Weak transcription	Primary B cells from cord blood	blood
37	chr4:166250600-166256200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:166250600-166259800	Weak transcription	Adipose Nuclei	Adipose
39	chr4:166250600-166259800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:166250600-166263200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:166250600-166265400	Weak transcription	Colonic Mucosa	Colon
42	chr4:166250600-166266800	Weak transcription	A549	lung
43	chr4:166251000-166253600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
44	chr4:166251000-166254000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:166251000-166254000	Transcr. at gene 5' and 3'	NHEK	skin
46	chr4:166251000-166254400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
47	chr4:166251000-166254600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:166251200-166253800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:166251200-166254000	Transcr. at gene 5' and 3'	HMEC	breast
50	chr4:166251200-166254200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell

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