Variant report

Variant	rs11204795
Chromosome Location	chr1:151247998-151247999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151245093..151248113-chr1:151249690..151252378,3	MCF-7	breast:
2	1:151246650-151254384..1:151402394-151411623	GM12878	blood:
3	chr1:151245378..151247558-chr1:151247994..151250804,2	K562	blood:
4	chr1:151247943..151250148-chr1:151251598..151254812,3	K562	blood:
5	chr1:151247846..151250456-chr1:151251985..151256344,5	K562	blood:
6	chr1:151245277..151246878-chr1:151247994..151250057,2	K562	blood:
7	1:151171193-151178589..1:151246650-151254384	GM12878	blood:

Variant related genes	Relation type
ENSG00000143398	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143373	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1056847	0.89[EUR][1000 genomes]
rs10788803	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10888408	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10888409	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10888410	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10888411	0.83[EUR][1000 genomes]
rs11204791	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12022732	0.82[ASN][1000 genomes]
rs12040384	0.83[ASN][1000 genomes]
rs12048670	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12062719	0.85[ASN][1000 genomes]
rs12407426	0.86[ASN][1000 genomes]
rs16827941	0.86[ASN][1000 genomes]
rs16833079	0.85[ASN][1000 genomes]
rs1892196	0.85[ASN][1000 genomes]
rs2275900	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs41302131	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4246525	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4520422	0.82[ASN][1000 genomes]
rs4522000	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4970948	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4971015	0.84[ASN][1000 genomes]
rs4971016	0.86[ASN][1000 genomes]
rs4971021	0.86[ASN][1000 genomes]
rs4971023	0.86[ASN][1000 genomes]
rs4971025	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4971026	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4971027	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4971030	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4971031	0.85[EUR][1000 genomes]
rs4971032	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5022636	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61817972	0.80[ASN][1000 genomes]
rs6587559	0.86[ASN][1000 genomes]
rs6587562	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6681071	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6681163	0.92[ASN][1000 genomes]
rs6686402	0.86[ASN][1000 genomes]
rs6695344	0.82[ASN][1000 genomes]
rs6701325	0.86[ASN][1000 genomes]
rs7518924	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7521064	0.84[ASN][1000 genomes]
rs7527032	0.86[ASN][1000 genomes]
rs7532935	0.86[ASN][1000 genomes]
rs7539584	0.82[ASN][1000 genomes]
rs7544947	0.86[ASN][1000 genomes]
rs7545392	0.83[EUR][1000 genomes]
rs943637	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[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	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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	106 gene(s)	inside rSNPs	diseases
4	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
2	chr1:151235000-151253400	Weak transcription	Stomach Mucosa	stomach
3	chr1:151237600-151253200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:151239000-151253200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151239400-151253400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:151240200-151253400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:151240400-151249000	Weak transcription	GM12878-XiMat	blood
8	chr1:151240400-151253200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:151240400-151253200	Weak transcription	Hela-S3	cervix
10	chr1:151240400-151253400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:151240600-151249000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:151240600-151249200	Weak transcription	Spleen	Spleen
13	chr1:151240600-151250200	Weak transcription	HepG2	liver
14	chr1:151240600-151253200	Weak transcription	Primary T cells from cord blood	blood
15	chr1:151240600-151253200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:151240600-151253200	Weak transcription	Right Ventricle	heart
17	chr1:151240600-151253200	Weak transcription	Dnd41	blood
18	chr1:151240600-151253400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:151240600-151253400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:151240600-151253400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:151240600-151253400	Weak transcription	Colonic Mucosa	Colon
22	chr1:151240600-151253400	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:151240600-151253400	Weak transcription	Esophagus	oesophagus
24	chr1:151240600-151253400	Weak transcription	Fetal Kidney	kidney
25	chr1:151240600-151253400	Weak transcription	Fetal Lung	lung
26	chr1:151240600-151253400	Weak transcription	Pancreas	Pancrea
27	chr1:151240600-151253400	Weak transcription	Psoas Muscle	Psoas
28	chr1:151240600-151253400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:151240600-151253400	Weak transcription	HMEC	breast
30	chr1:151240600-151253400	Weak transcription	NHLF	lung
31	chr1:151240600-151254000	Weak transcription	Aorta	Aorta
32	chr1:151240800-151249200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:151240800-151253400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:151240800-151253400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:151240800-151253400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:151240800-151253400	Weak transcription	Fetal Intestine Large	intestine
37	chr1:151240800-151253400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:151240800-151253600	Weak transcription	Small Intestine	intestine
39	chr1:151241600-151253400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:151241600-151253400	Weak transcription	Left Ventricle	heart
41	chr1:151241800-151253200	Weak transcription	Brain Germinal Matrix	brain
42	chr1:151241800-151253400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:151242800-151249200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:151242800-151253400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:151243000-151249200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:151243000-151250200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:151243000-151253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:151243000-151253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:151243200-151253200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:151243200-151253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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