Variant report

Variant	rs74098441
Chromosome Location	chr1:85155124-85155125
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78469181..78471632-chr1:85154975..85157700,2	K562	blood:
2	chr1:84969596..84972494-chr1:85154864..85156849,3	K562	blood:
3	chr1:85153044..85155913-chr1:85168206..85170903,2	K562	blood:
4	chr1:85038587..85040484-chr1:85154316..85157145,3	K562	blood:
5	chr1:84970994..84973830-chr1:85154472..85157447,5	K562	blood:
6	chr1:85150908..85155231-chr1:85184814..85188587,5	K562	blood:
7	chr1:84542242..84543745-chr1:85154770..85157524,2	K562	blood:

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000271576	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11163998	1.00[EUR][1000 genomes]
rs11164002	1.00[EUR][1000 genomes]
rs11164013	1.00[EUR][1000 genomes]
rs11164022	1.00[EUR][1000 genomes]
rs11164024	1.00[EUR][1000 genomes]
rs11164025	1.00[EUR][1000 genomes]
rs11807815	1.00[EUR][1000 genomes]
rs12058889	1.00[EUR][1000 genomes]
rs12058978	1.00[EUR][1000 genomes]
rs12059657	1.00[EUR][1000 genomes]
rs12062111	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068340	1.00[EUR][1000 genomes]
rs12070049	1.00[EUR][1000 genomes]
rs12075688	1.00[EUR][1000 genomes]
rs12076236	1.00[EUR][1000 genomes]
rs12077315	1.00[EUR][1000 genomes]
rs12080425	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084716	1.00[EUR][1000 genomes]
rs12091312	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092806	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093770	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095492	1.00[EUR][1000 genomes]
rs12095537	1.00[EUR][1000 genomes]
rs12096153	1.00[EUR][1000 genomes]
rs1591972	1.00[EUR][1000 genomes]
rs1803276	1.00[EUR][1000 genomes]
rs28667025	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28706082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2945131	1.00[EUR][1000 genomes]
rs2945132	1.00[EUR][1000 genomes]
rs2994926	1.00[EUR][1000 genomes]
rs2994927	1.00[EUR][1000 genomes]
rs59323332	1.00[AMR][1000 genomes]
rs60192023	1.00[AMR][1000 genomes]
rs6665333	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6669324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950312	1.00[EUR][1000 genomes]
rs74096103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74098423	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74098426	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74098430	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74098433	1.00[AMR][1000 genomes]
rs74098442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74098443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74098453	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74098454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517977	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532040	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7544392	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9661833	1.00[EUR][1000 genomes]

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	esv3349532	chr1:85154814-85157812	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85106400-85155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:85126400-85155200	Weak transcription	Left Ventricle	heart
3	chr1:85152600-85156800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:85152800-85155200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:85153200-85155200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:85153600-85155200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:85153600-85157000	Active TSS	K562	blood
8	chr1:85153600-85157400	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:85154000-85155200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:85154000-85155600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:85154000-85156800	Active TSS	GM12878-XiMat	blood
12	chr1:85154200-85155200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:85154200-85155200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:85154200-85155400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:85154200-85155400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:85154200-85155400	Flanking Active TSS	Thymus	Thymus
17	chr1:85154200-85155400	Flanking Active TSS	NHEK	skin
18	chr1:85154200-85155600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:85154400-85155200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:85154400-85155200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:85154400-85155200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:85154400-85155200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:85154400-85155200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:85154400-85155200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:85154400-85155200	Flanking Active TSS	Hela-S3	cervix
26	chr1:85154400-85155400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:85154400-85155400	Flanking Active TSS	Fetal Kidney	kidney
28	chr1:85154400-85155400	Weak transcription	Small Intestine	intestine
29	chr1:85154400-85155400	Flanking Active TSS	Dnd41	blood
30	chr1:85154400-85155400	Flanking Active TSS	HMEC	breast
31	chr1:85154400-85156800	Active TSS	Fetal Intestine Large	intestine
32	chr1:85154400-85156800	Active TSS	Fetal Intestine Small	intestine
33	chr1:85154400-85157000	Active TSS	H1 Cell Line	embryonic stem cell
34	chr1:85154400-85157200	Active TSS	A549	lung
35	chr1:85154600-85155200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr1:85154600-85155200	Enhancers	Primary B cells from cord blood	blood
37	chr1:85154600-85155400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:85154600-85155400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr1:85154600-85155400	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr1:85154600-85155600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:85154600-85155600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:85154600-85155600	Flanking Active TSS	Liver	Liver
43	chr1:85154600-85155600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:85154600-85155600	Active TSS	Right Atrium	heart
45	chr1:85154600-85156600	Active TSS	Fetal Brain Female	brain
46	chr1:85154600-85156800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:85154600-85156800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:85154600-85157000	Active TSS	Psoas Muscle	Psoas
49	chr1:85154600-85157400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:85154800-85155200	Flanking Active TSS	H9 Cell Line	embryonic stem cell

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