Variant report

Variant	rs11877963
Chromosome Location	chr18:44672663-44672664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44664428..44666267-chr18:44672303..44675573,3	K562	blood:
2	chr18:44667945..44673232-chr18:44673754..44678571,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167220	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11872350	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872528	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873174	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874348	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874582	1.00[CHB][hapmap]
rs11874634	1.00[CHB][hapmap]
rs11875258	1.00[AMR][1000 genomes]
rs11876118	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876274	1.00[CHB][hapmap]
rs11876495	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11878050	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949623	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs55717985	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55823165	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890037	0.80[AMR][1000 genomes]
rs56055727	0.80[AMR][1000 genomes]
rs56090313	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66875245	1.00[ASN][1000 genomes]
rs67918319	1.00[ASN][1000 genomes]
rs7238877	1.00[CHB][hapmap]
rs7240843	1.00[CHB][hapmap]
rs7240909	1.00[CHB][hapmap]
rs72903212	0.80[AMR][1000 genomes]
rs72903231	0.80[AMR][1000 genomes]
rs72903252	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903283	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903284	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903301	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905404	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905405	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905406	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905408	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905410	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905422	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72905430	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72905433	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905469	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905471	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905478	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905489	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905490	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905500	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907205	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907208	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907211	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907215	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907226	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907232	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907238	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907248	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907250	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907257	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907259	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907266	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907271	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72907274	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907278	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909213	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909219	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909232	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909234	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909287	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909295	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911209	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919256	0.80[AMR][1000 genomes]
rs72921366	0.80[AMR][1000 genomes]
rs8092148	1.00[CHB][hapmap]
rs8094449	1.00[CHB][hapmap]

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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv576819	chr18:44602249-44677627	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv909613	chr18:44644530-44690107	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44620800-44675400	Weak transcription	A549	lung
2	chr18:44621600-44674400	Weak transcription	Small Intestine	intestine
3	chr18:44629200-44675800	Weak transcription	HUVEC	blood vessel
4	chr18:44632400-44675800	Weak transcription	Stomach Mucosa	stomach
5	chr18:44640600-44675600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:44641600-44674000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr18:44641600-44675800	Weak transcription	Lung	lung
8	chr18:44641800-44674400	Weak transcription	Aorta	Aorta
9	chr18:44641800-44675200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:44641800-44675400	Weak transcription	Fetal Intestine Small	intestine
11	chr18:44641800-44675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:44641800-44675800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:44642000-44675200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:44642200-44674600	Weak transcription	NHEK	skin
15	chr18:44647800-44675800	Weak transcription	Ovary	ovary
16	chr18:44656400-44675200	Weak transcription	Thymus	Thymus
17	chr18:44656800-44675000	Weak transcription	Colon Smooth Muscle	Colon
18	chr18:44656800-44675200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:44661200-44675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr18:44661400-44673600	Weak transcription	NHLF	lung
21	chr18:44661400-44674800	Weak transcription	Brain Substantia Nigra	brain
22	chr18:44661400-44675400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr18:44661400-44675600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:44661600-44674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr18:44661600-44675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:44661600-44675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:44662200-44675800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:44662600-44673800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr18:44662600-44675200	Weak transcription	Hela-S3	cervix
30	chr18:44662800-44673800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:44662800-44674800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr18:44662800-44674800	Weak transcription	Adipose Nuclei	Adipose
33	chr18:44662800-44675000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:44662800-44675200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:44662800-44675200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr18:44662800-44675400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr18:44662800-44675400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:44662800-44675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:44662800-44675400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr18:44662800-44675400	Weak transcription	HMEC	breast
41	chr18:44662800-44675400	Weak transcription	NHDF-Ad	bronchial
42	chr18:44662800-44675600	Weak transcription	Brain Angular Gyrus	brain
43	chr18:44662800-44675600	Weak transcription	Fetal Muscle Leg	muscle
44	chr18:44662800-44675600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr18:44662800-44675800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr18:44662800-44675800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr18:44662800-44675800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr18:44662800-44675800	Weak transcription	Brain Anterior Caudate	brain
49	chr18:44662800-44675800	Weak transcription	Placenta	Placenta
50	chr18:44663000-44673000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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