Variant report

Variant	rs7192155
Chromosome Location	chr16:75382194-75382195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75381200..75384064-chr16:75408977..75410477,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1017239	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10459859	0.81[ASN][1000 genomes]
rs1074961	0.95[ASN][1000 genomes]
rs10781977	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10871307	0.90[ASN][1000 genomes]
rs10871308	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149812	0.88[ASN][1000 genomes]
rs11149813	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11149814	0.88[ASN][1000 genomes]
rs11149816	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11645691	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11646418	0.94[ASN][1000 genomes]
rs12445188	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12445211	0.94[ASN][1000 genomes]
rs12445813	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12446903	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12449177	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12922897	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12932952	0.94[ASN][1000 genomes]
rs12935329	0.94[ASN][1000 genomes]
rs1862705	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1895489	0.86[ASN][1000 genomes]
rs2032926	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2059257	0.92[ASN][1000 genomes]
rs247423	0.89[ASN][1000 genomes]
rs247424	0.88[ASN][1000 genomes]
rs247425	0.88[ASN][1000 genomes]
rs247427	0.93[ASN][1000 genomes]
rs247431	0.93[ASN][1000 genomes]
rs247434	0.92[ASN][1000 genomes]
rs247436	0.93[ASN][1000 genomes]
rs247437	0.91[ASN][1000 genomes]
rs247438	0.93[ASN][1000 genomes]
rs2865527	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2865532	0.92[ASN][1000 genomes]
rs3743606	0.86[ASN][1000 genomes]
rs3784936	0.91[ASN][1000 genomes]
rs3784937	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3844219	0.94[ASN][1000 genomes]
rs3851735	0.94[ASN][1000 genomes]
rs3851736	0.96[ASN][1000 genomes]
rs3851739	0.85[ASN][1000 genomes]
rs40217	0.81[ASN][1000 genomes]
rs4536500	0.91[ASN][1000 genomes]
rs455407	0.93[ASN][1000 genomes]
rs467223	0.92[ASN][1000 genomes]
rs467780	0.92[ASN][1000 genomes]
rs468079	0.93[ASN][1000 genomes]
rs4887813	0.86[ASN][1000 genomes]
rs4887814	0.88[ASN][1000 genomes]
rs4888374	0.88[ASN][1000 genomes]
rs4888375	0.88[ASN][1000 genomes]
rs4888381	0.94[ASN][1000 genomes]
rs4888393	0.92[ASN][1000 genomes]
rs4888394	0.92[ASN][1000 genomes]
rs4888395	0.92[ASN][1000 genomes]
rs4888396	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4888397	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888398	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4993971	0.92[ASN][1000 genomes]
rs6564249	0.96[ASN][1000 genomes]
rs6564256	0.92[ASN][1000 genomes]
rs7189407	0.84[ASN][1000 genomes]
rs7199680	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7201989	0.82[EUR][1000 genomes]
rs7202284	0.94[ASN][1000 genomes]
rs766522	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8046184	0.92[ASN][1000 genomes]
rs8046949	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8048677	0.93[ASN][1000 genomes]
rs8048816	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8049611	0.92[ASN][1000 genomes]
rs8050662	0.95[ASN][1000 genomes]
rs8051611	0.96[ASN][1000 genomes]
rs8051785	0.91[ASN][1000 genomes]
rs8053632	0.94[ASN][1000 genomes]
rs8054586	0.92[ASN][1000 genomes]
rs8055609	0.93[ASN][1000 genomes]
rs889446	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9933956	0.94[ASN][1000 genomes]
rs9934007	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9989421	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	esv2762265	chr16:75368897-75415866	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
8	esv2422358	chr16:75381762-75456763	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7192155	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75338800-75426400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:75339400-75411800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:75352200-75396000	Weak transcription	Lung	lung
4	chr16:75354800-75413600	Weak transcription	Fetal Thymus	thymus
5	chr16:75358400-75421400	Weak transcription	K562	blood
6	chr16:75365200-75392400	Weak transcription	Brain Angular Gyrus	brain
7	chr16:75368600-75396600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:75368600-75411400	Weak transcription	GM12878-XiMat	blood
9	chr16:75368600-75412800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:75368800-75409800	Weak transcription	Thymus	Thymus
11	chr16:75368800-75413200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr16:75369200-75406000	Weak transcription	Dnd41	blood
13	chr16:75375200-75400000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:75375400-75384600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:75375800-75408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:75376600-75396600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:75376600-75410600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr16:75376600-75426800	Weak transcription	Brain Germinal Matrix	brain
19	chr16:75376800-75382800	Weak transcription	Aorta	Aorta
20	chr16:75377000-75383000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr16:75377000-75384600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:75377000-75385200	Weak transcription	Spleen	Spleen
23	chr16:75377000-75391200	Weak transcription	Ovary	ovary
24	chr16:75377000-75396400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:75377000-75396400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:75377000-75399200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr16:75377000-75399200	Weak transcription	Fetal Intestine Large	intestine
28	chr16:75377000-75411600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr16:75377000-75411800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:75377000-75424400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr16:75377000-75426400	Weak transcription	Gastric	stomach
32	chr16:75377200-75385000	Weak transcription	A549	lung
33	chr16:75377200-75424000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:75377400-75426400	Weak transcription	Pancreas	Pancrea
35	chr16:75377600-75384200	Weak transcription	HMEC	breast
36	chr16:75377600-75384800	Weak transcription	HSMM	muscle
37	chr16:75377600-75384800	Weak transcription	NHDF-Ad	bronchial
38	chr16:75377600-75395800	Weak transcription	Adipose Nuclei	Adipose
39	chr16:75377600-75400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:75377600-75405000	Weak transcription	Liver	Liver
41	chr16:75377600-75407600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr16:75377600-75410200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:75377600-75411800	Weak transcription	Left Ventricle	heart
44	chr16:75377800-75382800	Weak transcription	Fetal Intestine Small	intestine
45	chr16:75377800-75384400	Weak transcription	NH-A	brain
46	chr16:75377800-75384800	Weak transcription	NHEK	skin
47	chr16:75377800-75385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:75377800-75390200	Weak transcription	Small Intestine	intestine
49	chr16:75377800-75395800	Weak transcription	Fetal Muscle Leg	muscle
50	chr16:75377800-75405000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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