Variant report

Variant	rs11590474
Chromosome Location	chr1:174972588-174972589
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	ZNF384	chr1:174972045-174972590	K562	blood:	n/a	chr1:174972181-174972189
2	POLR2A	chr1:174972571-174978477	K562	blood:	n/a	n/a
3	TAL1	chr1:174972476-174972666	K562	blood:	n/a	n/a
4	BHLHE40	chr1:174972222-174972604	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:174968752..174972930-chr1:174980465..174984788,7	MCF-7	breast:
2	chr1:174966465..174968007-chr1:174970965..174973643,2	MCF-7	breast:
3	chr1:174966455..174979047-chr1:174985921..174994239,29	MCF-7	breast:
4	chr1:174968308..174972682-chr1:174973669..174977278,7	MCF-7	breast:
5	chr1:174966903..174971287-chr1:174971534..174977740,10	MCF-7	breast:

Variant related genes	Relation type
CACYBP	TF binding region
ENSG00000120333	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000206659	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1046439	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs1801791	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs1984418	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs2105949	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs2285210	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs3018410	1.00[LWK][hapmap]
rs35996757	0.81[EUR][1000 genomes]
rs4651238	1.00[LWK][hapmap]
rs6425305	1.00[LWK][hapmap]
rs6425309	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap]
rs6425310	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs6665216	1.00[LWK][hapmap]
rs6669560	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs7538588	1.00[LWK][hapmap]
rs9804056	1.00[LWK][hapmap]
rs989423	1.00[MKK][hapmap];0.84[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001000	chr1:174944208-174978853	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174969800-174981600	Weak transcription	Gastric	stomach
2	chr1:174970000-174974000	Weak transcription	Left Ventricle	heart
3	chr1:174970000-174977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:174970000-174977200	Weak transcription	Lung	lung
5	chr1:174970000-174977200	Weak transcription	Pancreas	Pancrea
6	chr1:174970000-174982400	Weak transcription	Esophagus	oesophagus
7	chr1:174970000-174991800	Weak transcription	Stomach Mucosa	stomach
8	chr1:174970200-174973800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:174970200-174976600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:174970200-174977000	Weak transcription	Colonic Mucosa	Colon
11	chr1:174970200-174981200	Weak transcription	Right Ventricle	heart
12	chr1:174970400-174973000	Enhancers	Liver	Liver
13	chr1:174970400-174973200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:174970400-174973800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:174970400-174976800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:174970400-174977200	Weak transcription	Aorta	Aorta
17	chr1:174970600-174972600	Enhancers	Fetal Thymus	thymus
18	chr1:174970600-174973200	Enhancers	Small Intestine	intestine
19	chr1:174970600-174973600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:174970600-174974000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:174970600-174977200	Weak transcription	Fetal Stomach	stomach
22	chr1:174970600-174981800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:174970800-174972600	Enhancers	Primary T cells from cord blood	blood
24	chr1:174970800-174972600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:174970800-174972600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:174970800-174973000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:174970800-174973200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr1:174970800-174973200	Enhancers	Fetal Lung	lung
29	chr1:174970800-174973200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:174970800-174973400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:174970800-174973600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr1:174970800-174973600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:174970800-174973800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:174970800-174973800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:174970800-174973800	Weak transcription	NH-A	brain
36	chr1:174970800-174974200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:174970800-174974200	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:174970800-174974200	Weak transcription	Fetal Brain Female	brain
39	chr1:174970800-174974200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:174970800-174974400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:174970800-174975800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:174970800-174975800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:174970800-174976800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:174970800-174977200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:174970800-174980800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:174970800-174986000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:174971000-174972800	Enhancers	NHEK	skin
48	chr1:174971000-174973000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:174971000-174973000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:174971000-174973600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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