Variant report

Variant	rs10871308
Chromosome Location	chr16:75342846-75342847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75342449..75344190-chr16:75344958..75347399,2	K562	blood:
2	chr16:75339483..75341354-chr16:75341556..75343894,3	K562	blood:
3	chr16:75341957..75345575-chr16:75345642..75348406,3	MCF-7	breast:
4	chr16:75284253..75286453-chr16:75342020..75344397,2	MCF-7	breast:
5	chr16:75296329..75299018-chr16:75342294..75345279,2	MCF-7	breast:
6	chr16:75342673..75344343-chr16:75413150..75415792,2	MCF-7	breast:
7	chr16:75339157..75341354-chr16:75341501..75344826,6	K562	blood:
8	chr16:75338626..75341823-chr16:75342564..75345617,5	MCF-7	breast:
9	chr16:75272479..75274347-chr16:75342117..75343955,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153774	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000261783	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1017239	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10514393	0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs10514396	0.83[JPT][hapmap]
rs1074961	0.92[ASN][1000 genomes]
rs10781977	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10871307	0.99[ASN][1000 genomes]
rs1109342	0.83[JPT][hapmap]
rs11149812	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11149813	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11149814	0.97[ASN][1000 genomes]
rs11149815	0.88[JPT][hapmap]
rs11149816	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11149831	0.83[JPT][hapmap]
rs11641532	0.82[CHB][hapmap]
rs11645329	0.81[ASN][1000 genomes]
rs11645691	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11646418	0.94[ASN][1000 genomes]
rs12149063	0.83[JPT][hapmap]
rs12445188	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12445211	0.97[ASN][1000 genomes]
rs12445813	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12446903	0.91[ASN][1000 genomes]
rs12449177	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12922897	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12932952	0.94[ASN][1000 genomes]
rs12935329	0.94[ASN][1000 genomes]
rs1364078	0.84[JPT][hapmap]
rs1549306	0.83[JPT][hapmap]
rs17696696	0.83[JPT][hapmap]
rs185052	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1862705	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1862706	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1895489	0.94[ASN][1000 genomes]
rs1895490	0.83[JPT][hapmap]
rs2032926	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2059256	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2059257	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2242405	0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap]
rs247423	0.87[ASN][1000 genomes]
rs247424	0.86[ASN][1000 genomes]
rs247425	0.86[ASN][1000 genomes]
rs247427	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs247431	0.91[ASN][1000 genomes]
rs247434	0.90[ASN][1000 genomes]
rs247436	0.91[ASN][1000 genomes]
rs247437	0.89[ASN][1000 genomes]
rs247438	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs247447	0.82[JPT][hapmap]
rs2865527	0.87[ASN][1000 genomes]
rs2865530	0.83[JPT][hapmap]
rs2865531	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2865532	0.96[ASN][1000 genomes]
rs2903033	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs35263058	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs3743606	0.94[ASN][1000 genomes]
rs37602	0.81[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap]
rs3784936	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3784937	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844219	0.94[ASN][1000 genomes]
rs3851733	0.83[JPT][hapmap]
rs3851735	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3851736	0.91[ASN][1000 genomes]
rs3851739	0.80[ASN][1000 genomes]
rs3863445	0.82[JPT][hapmap]
rs4146809	0.83[JPT][hapmap]
rs4146810	0.82[JPT][hapmap]
rs42472	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs4536500	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs455407	0.91[ASN][1000 genomes]
rs4638613	0.83[JPT][hapmap]
rs467223	0.90[ASN][1000 genomes]
rs467780	0.90[ASN][1000 genomes]
rs468079	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4887812	0.85[ASN][1000 genomes]
rs4887813	0.94[ASN][1000 genomes]
rs4887814	0.96[ASN][1000 genomes]
rs4887823	0.82[JPT][hapmap]
rs4887824	0.83[JPT][hapmap]
rs4887828	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs4888370	0.86[ASN][1000 genomes]
rs4888371	0.85[ASN][1000 genomes]
rs4888374	0.95[ASN][1000 genomes]
rs4888375	0.95[ASN][1000 genomes]
rs4888379	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs4888380	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs4888381	0.94[ASN][1000 genomes]
rs4888383	0.83[JPT][hapmap]
rs4888386	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4888387	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4888388	0.83[JPT][hapmap]
rs4888389	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4888393	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4888394	0.90[ASN][1000 genomes]
rs4888395	0.90[ASN][1000 genomes]
rs4888396	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888397	0.88[ASN][1000 genomes]
rs4888398	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888405	0.83[JPT][hapmap]
rs4888415	0.82[JPT][hapmap]
rs4888416	0.83[JPT][hapmap]
rs4888430	0.80[CHB][hapmap]
rs4993971	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6564245	0.85[ASN][1000 genomes]
rs6564249	0.95[ASN][1000 genomes]
rs6564256	0.90[ASN][1000 genomes]
rs7187263	0.85[ASN][1000 genomes]
rs7188604	0.83[JPT][hapmap]
rs7189407	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7192155	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7199132	0.81[JPT][hapmap]
rs7199680	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7202284	0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7203157	0.83[JPT][hapmap]
rs766521	0.83[JPT][hapmap]
rs766522	0.86[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8046109	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs8046184	0.90[ASN][1000 genomes]
rs8046416	0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap]
rs8046949	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8047811	0.84[ASN][1000 genomes]
rs8048677	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8048816	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8049611	0.90[ASN][1000 genomes]
rs8050059	0.83[JPT][hapmap]
rs8050662	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8051611	0.91[ASN][1000 genomes]
rs8051785	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8053632	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8054586	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs8055609	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs889446	0.95[CEU][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922008	0.81[ASN][1000 genomes]
rs9933956	0.94[ASN][1000 genomes]
rs9934007	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9989421	0.84[EUR][1000 genomes];0.91[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	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10871308	RFWD3	cis	cerebellum	SCAN
rs10871308	FA2H	cis	multi-tissue	Pritchard
rs10871308	CFDP1	Cis_1M	lymphoblastoid	RTeQTL
rs10871308	CFDP1	cis	multi-tissue	Pritchard

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75317400-75358000	Weak transcription	Fetal Brain Male	brain
2	chr16:75332600-75352000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75335000-75346400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:75336000-75346600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:75336600-75343000	Weak transcription	Gastric	stomach
6	chr16:75336800-75346600	Weak transcription	Ovary	ovary
7	chr16:75338800-75343000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:75338800-75346600	Weak transcription	Fetal Brain Female	brain
9	chr16:75338800-75349400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:75338800-75349800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr16:75338800-75351200	Weak transcription	Right Ventricle	heart
12	chr16:75338800-75426400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:75339000-75346800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:75339000-75347000	Weak transcription	Lung	lung
15	chr16:75339200-75358000	Weak transcription	Brain Germinal Matrix	brain
16	chr16:75339400-75411800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr16:75339600-75343400	Weak transcription	Primary B cells from cord blood	blood
18	chr16:75339600-75343400	Enhancers	Fetal Muscle Leg	muscle
19	chr16:75339800-75346800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:75339800-75347000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:75339800-75347000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:75340000-75344200	Enhancers	Pancreas	Pancrea
23	chr16:75340000-75353200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr16:75340200-75343600	Enhancers	Fetal Intestine Large	intestine
25	chr16:75340200-75353000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr16:75340200-75353200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr16:75340400-75343400	Enhancers	Dnd41	blood
28	chr16:75340400-75344600	Enhancers	Stomach Mucosa	stomach
29	chr16:75340400-75345200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:75340400-75345200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:75340400-75345400	Weak transcription	Fetal Stomach	stomach
32	chr16:75340400-75346800	Weak transcription	Adipose Nuclei	Adipose
33	chr16:75340400-75347400	Weak transcription	Thymus	Thymus
34	chr16:75340400-75349600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr16:75340400-75351000	Weak transcription	GM12878-XiMat	blood
36	chr16:75340400-75353200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:75340400-75374800	Weak transcription	Aorta	Aorta
38	chr16:75340600-75343800	Weak transcription	HSMMtube	muscle
39	chr16:75340600-75345600	Weak transcription	Colon Smooth Muscle	Colon
40	chr16:75340600-75346400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr16:75340600-75347800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr16:75340600-75352600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:75340600-75352800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr16:75340600-75353000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:75340600-75354200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr16:75340800-75343800	Weak transcription	Fetal Kidney	kidney
47	chr16:75340800-75344600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr16:75340800-75345200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:75340800-75345200	Weak transcription	Osteobl	bone
50	chr16:75340800-75346800	Weak transcription	Primary T cells from cord blood	blood

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