Variant report

Variant	rs1220411
Chromosome Location	chr1:9924677-9924678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9781386..9784652-chr1:9924402..9927637,3	K562	blood:
2	chr1:9921008..9924998-chr1:9925415..9929659,6	K562	blood:
3	chr1:9923513..9926464-chr1:9996887..9999846,2	K562	blood:
4	chr1:9884159..9886473-chr1:9923899..9926345,2	MCF-7	breast:
5	chr1:9907349..9914090-chr1:9919874..9926540,9	K562	blood:

Variant related genes	Relation type
ENSG00000171603	Chromatin interaction
ENSG00000223989	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1220381	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1220382	0.87[EUR][1000 genomes]
rs1220384	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1220392	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1220393	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1220394	0.87[EUR][1000 genomes]
rs1220395	0.87[EUR][1000 genomes]
rs1220396	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1220405	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1220406	0.88[EUR][1000 genomes]
rs1220412	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1220413	0.92[EUR][1000 genomes]
rs1220418	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1372106	0.87[EUR][1000 genomes]
rs1470160	0.92[EUR][1000 genomes]
rs1660735	0.90[EUR][1000 genomes]
rs2083577	0.85[EUR][1000 genomes]
rs2379108	0.87[EUR][1000 genomes]
rs2486084	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2582980	0.87[EUR][1000 genomes]
rs2582981	0.86[EUR][1000 genomes]
rs3120822	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7225	0.87[EUR][1000 genomes]
rs935073	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs935074	0.92[EUR][1000 genomes]
rs935075	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs946275	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9904000-9929800	Weak transcription	Aorta	Aorta
2	chr1:9904200-9927400	Weak transcription	Colonic Mucosa	Colon
3	chr1:9904200-9927800	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:9904400-9927800	Weak transcription	Stomach Mucosa	stomach
5	chr1:9904400-9930000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:9904600-9935000	Weak transcription	Osteobl	bone
7	chr1:9904800-9946000	Weak transcription	Fetal Kidney	kidney
8	chr1:9906600-9927400	Weak transcription	Liver	Liver
9	chr1:9907000-9930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:9907400-9929800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:9910000-9935000	Weak transcription	NHLF	lung
12	chr1:9911000-9927400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:9911000-9930400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:9911200-9932400	Weak transcription	Fetal Heart	heart
15	chr1:9911400-9927200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:9912200-9929600	Weak transcription	Primary B cells from cord blood	blood
17	chr1:9912200-9929600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:9912600-9927000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:9913400-9927400	Weak transcription	Fetal Brain Male	brain
20	chr1:9913600-9927800	Weak transcription	Brain Angular Gyrus	brain
21	chr1:9914000-9927200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:9914000-9927400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:9914000-9927400	Weak transcription	Dnd41	blood
24	chr1:9914000-9927800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:9914000-9929600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:9914000-9929800	Weak transcription	Primary T cells from cord blood	blood
27	chr1:9914200-9926800	Weak transcription	Fetal Lung	lung
28	chr1:9915800-9928400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:9915800-9935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:9917800-9925200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:9917800-9934400	Strong transcription	Fetal Intestine Small	intestine
32	chr1:9918000-9932800	Strong transcription	Fetal Brain Female	brain
33	chr1:9918200-9932800	Strong transcription	Lung	lung
34	chr1:9918600-9943800	Weak transcription	Small Intestine	intestine
35	chr1:9918800-9925800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:9919400-9926000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:9919800-9924800	Weak transcription	HUVEC	blood vessel
38	chr1:9919800-9926000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:9920000-9925600	Weak transcription	NH-A	brain
40	chr1:9920000-9929400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:9920000-9929400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:9920000-9929600	Weak transcription	Thymus	Thymus
43	chr1:9920000-9930400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:9920200-9925800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:9920200-9926200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:9920200-9927200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:9920200-9927800	Weak transcription	HMEC	breast
48	chr1:9920200-9929600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:9920200-9930400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:9920200-9932200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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