Variant report

Variant	rs2318761
Chromosome Location	chr1:150257714-150257715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150247883..150249677-chr1:150256020..150258430,2	K562	blood:
2	chr1:150205929..150207745-chr1:150256574..150258552,2	MCF-7	breast:
3	chr1:150254416..150258326-chr1:150293142..150296194,3	K562	blood:
4	chr1:150247383..150251206-chr1:150256020..150261990,7	K562	blood:

Variant related genes	Relation type
ENSG00000143401	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10788873	0.82[EUR][1000 genomes]
rs11205357	0.82[ASN][1000 genomes]
rs11205359	0.81[ASN][1000 genomes]
rs1122967	0.85[ASN][1000 genomes]
rs1260396	0.80[ASN][1000 genomes]
rs1260398	0.81[ASN][1000 genomes]
rs1776273	0.82[ASN][1000 genomes]
rs1776274	0.82[ASN][1000 genomes]
rs2147324	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274127	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4581308	0.80[ASN][1000 genomes]
rs471738	0.81[ASN][1000 genomes]
rs543179	0.82[ASN][1000 genomes]
rs580060	0.80[ASN][1000 genomes]
rs580159	0.81[ASN][1000 genomes]
rs6676685	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6685252	0.85[ASN][1000 genomes]
rs7512552	0.85[ASN][1000 genomes]
rs7554686	0.84[ASN][1000 genomes]
rs8006	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	164 gene(s)	inside rSNPs	diseases
3	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150254400-150260600	Weak transcription	K562	blood
2	chr1:150254600-150266200	Weak transcription	Small Intestine	intestine
3	chr1:150255400-150265400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:150255400-150265800	Weak transcription	HSMMtube	muscle
5	chr1:150255400-150266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:150255600-150265800	Weak transcription	Aorta	Aorta
7	chr1:150255800-150258800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:150255800-150258800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:150255800-150258800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:150255800-150259000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:150255800-150265400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:150255800-150266000	Weak transcription	Gastric	stomach
13	chr1:150256000-150258600	Weak transcription	NHLF	lung
14	chr1:150256000-150258800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:150256000-150258800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:150256000-150258800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:150256000-150258800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:150256000-150258800	Weak transcription	Esophagus	oesophagus
19	chr1:150256000-150258800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:150256000-150259000	Weak transcription	Fetal Stomach	stomach
21	chr1:150256000-150265400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:150256000-150265400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:150256000-150265400	Weak transcription	Fetal Lung	lung
24	chr1:150256000-150265400	Weak transcription	Psoas Muscle	Psoas
25	chr1:150256000-150265400	Weak transcription	Right Ventricle	heart
26	chr1:150256000-150265400	Weak transcription	NHEK	skin
27	chr1:150256000-150265600	Weak transcription	NH-A	brain
28	chr1:150256000-150265800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:150256000-150265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:150256000-150266000	Weak transcription	Pancreas	Pancrea
31	chr1:150256200-150258000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:150256200-150258600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:150256200-150258600	Weak transcription	Fetal Intestine Large	intestine
34	chr1:150256200-150258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:150256200-150258800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:150256200-150258800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:150256200-150258800	Weak transcription	Brain Angular Gyrus	brain
38	chr1:150256200-150258800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:150256200-150258800	Weak transcription	Fetal Brain Female	brain
40	chr1:150256200-150258800	Weak transcription	Osteobl	bone
41	chr1:150256200-150259000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:150256200-150265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:150256200-150265400	Weak transcription	Brain Germinal Matrix	brain
44	chr1:150256200-150265400	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:150256200-150265400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:150256200-150265600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:150256200-150265600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:150256200-150265800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:150256200-150265800	Weak transcription	Fetal Intestine Small	intestine
50	chr1:150256200-150265800	Weak transcription	HMEC	breast

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