Variant report

Variant	rs2305411
Chromosome Location	chr15:35253182-35253183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:35252403..35254603-chr15:35260374..35262627,3	K562	blood:
2	chr15:35251304..35254918-chr15:35255503..35258833,5	K562	blood:
3	chr15:35250897..35253183-chr15:35255083..35256675,3	K562	blood:
4	chr15:35252626..35258121-chr15:35259367..35263228,9	K562	blood:

Variant related genes	Relation type
ENSG00000021776	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10152246	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10438394	0.85[ASN][1000 genomes]
rs10444812	0.83[EUR][1000 genomes]
rs10519967	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11073076	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11629721	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11635485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636350	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852957	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11855784	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs11857217	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs12439825	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12441204	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs12442905	0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs12591197	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12593379	0.81[EUR][1000 genomes]
rs12593603	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12593818	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12595318	0.81[ASN][1000 genomes]
rs12708534	0.95[ASN][1000 genomes]
rs12898639	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12899377	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs12901028	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12901394	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12901457	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12901466	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12901794	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12901991	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12915053	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12915493	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12917386	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1376784	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16959966	0.86[CHB][hapmap]
rs2060809	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060810	0.95[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060811	0.95[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs2060812	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290320	0.83[JPT][hapmap]
rs28498500	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28715915	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36067547	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743121	0.86[CHB][hapmap]
rs3816447	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3848167	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4513050	0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs4569214	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4923817	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4923818	0.83[EUR][1000 genomes]
rs4923845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923849	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4924325	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4924339	0.84[JPT][hapmap]
rs4924344	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4924355	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4924357	0.95[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4924369	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6495724	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs6495726	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6495728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495730	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7164151	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7164169	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7164266	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7164977	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7165835	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7167892	0.95[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7170280	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7170737	0.80[ASN][1000 genomes]
rs7172507	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7177337	0.96[ASN][1000 genomes]
rs7177962	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7179205	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7179833	0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs7181836	0.92[ASN][1000 genomes]
rs7182356	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7497306	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8024212	0.86[AMR][1000 genomes]
rs8025770	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs8029192	0.81[AMR][1000 genomes]
rs8031861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037610	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8040551	0.81[CHB][hapmap]
rs959478	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs963425	0.95[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9806487	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9920236	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9920529	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	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2761865	chr15:35101678-35271639	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv832967	chr15:35110102-35267906	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv904072	chr15:35150897-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv569154	chr15:35165366-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35198800-35261200	Weak transcription	Esophagus	oesophagus
2	chr15:35207000-35259400	Weak transcription	Small Intestine	intestine
3	chr15:35220600-35260200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:35221200-35260800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:35223400-35260600	Weak transcription	Fetal Heart	heart
6	chr15:35224200-35258800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:35225200-35254200	Weak transcription	Right Ventricle	heart
8	chr15:35225400-35259200	Weak transcription	Psoas Muscle	Psoas
9	chr15:35229400-35261000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:35232200-35260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:35232400-35256600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:35232800-35258800	Weak transcription	Brain Germinal Matrix	brain
13	chr15:35233200-35259600	Weak transcription	Brain Angular Gyrus	brain
14	chr15:35235000-35256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:35235000-35256400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr15:35235000-35258000	Weak transcription	Brain Substantia Nigra	brain
17	chr15:35235000-35258800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:35235000-35260200	Weak transcription	Stomach Mucosa	stomach
19	chr15:35235000-35260800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:35235200-35254000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr15:35235200-35260800	Weak transcription	Fetal Brain Female	brain
22	chr15:35235400-35259400	Weak transcription	Gastric	stomach
23	chr15:35236600-35260800	Weak transcription	Fetal Kidney	kidney
24	chr15:35237400-35258600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr15:35239600-35257200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr15:35240000-35261000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:35240600-35260600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr15:35240600-35260800	Weak transcription	Brain Anterior Caudate	brain
29	chr15:35243200-35261200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr15:35243400-35253600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:35243400-35253800	Weak transcription	Hela-S3	cervix
32	chr15:35243600-35253400	Weak transcription	Fetal Lung	lung
33	chr15:35244600-35253800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:35244600-35255000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:35244600-35259400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:35244600-35259600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:35244600-35260800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:35244800-35260400	Weak transcription	HMEC	breast
39	chr15:35244800-35260800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:35244800-35260800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:35245000-35260800	Weak transcription	NHDF-Ad	bronchial
42	chr15:35246000-35254000	Weak transcription	K562	blood
43	chr15:35247400-35257400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:35247800-35253400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:35248000-35259400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:35248400-35260600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:35248400-35260800	Weak transcription	Osteobl	bone
48	chr15:35248800-35259800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:35248800-35260200	Weak transcription	Pancreas	Pancrea
50	chr15:35249400-35259400	Weak transcription	Right Atrium	heart

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