Variant report

Variant	rs16895218
Chromosome Location	chr6:29621007-29621008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:29620900-29621050	GM12872	blood:	n/a	n/a
2	RFX5	chr6:29620713-29621860	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr6:29620960-29621110	BE2_C	brain:	n/a	n/a
4	CTCF	chr6:29620820-29621050	HPF	lung:	n/a	n/a
5	CTCF	chr6:29620980-29621130	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr6:29620880-29621030	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr6:29620845-29621808	A549	lung:	n/a	chr6:29621412-29621428 chr6:29621406-29621427 chr6:29621416-29621424 chr6:29621413-29621426 chr6:29621413-29621426 chr6:29621411-29621429
8	CTCF	chr6:29620960-29621110	HFF	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:29620955..29621482-chr6:29664090..29665046,2	MCF-7	breast:
2	chr6:29619657..29623284-chr6:29624891..29627355,4	K562	blood:
3	chr6:29616642..29621245-chr6:29621568..29627231,6	K562	blood:
4	chr6:29594126..29596213-chr6:29619646..29621373,2	K562	blood:
5	chr6:29619566..29622372-chr6:29653366..29655066,2	MCF-7	breast:
6	chr6:29585702..29586556-chr6:29620907..29621418,2	K562	blood:
7	chr6:29619372..29622160-chr6:29632758..29634460,2	K562	blood:

Variant related genes	Relation type
MOG	TF binding region
ENSG00000204655	Chromatin interaction
ENSG00000204681	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs17184661	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2057010	0.82[AMR][1000 genomes]
rs29219	0.82[AMR][1000 genomes]
rs29233	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29254	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3025628	0.82[AMR][1000 genomes]
rs3025642	0.82[AMR][1000 genomes]
rs3117313	0.92[ASN][1000 genomes]
rs3906306	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4085262	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4085264	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4143366	0.85[ASN][1000 genomes]
rs55661776	0.85[ASN][1000 genomes]
rs55672647	0.85[ASN][1000 genomes]
rs55693745	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55792521	0.82[ASN][1000 genomes]
rs55933609	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56044823	0.85[ASN][1000 genomes]
rs56045105	0.82[AMR][1000 genomes]
rs56101454	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56142919	0.82[AMR][1000 genomes]
rs56155438	0.82[AMR][1000 genomes]
rs56155978	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56172386	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56269224	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56393713	0.82[AMR][1000 genomes]
rs62391766	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62391767	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391768	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391770	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391785	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391786	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62391801	0.85[ASN][1000 genomes]
rs62391819	0.85[ASN][1000 genomes]
rs62391822	0.85[ASN][1000 genomes]
rs62391833	0.85[ASN][1000 genomes]
rs62392946	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62392949	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62392950	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62392951	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62392953	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392954	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392955	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392956	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392957	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62392958	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62406580	0.82[AMR][1000 genomes]
rs62406583	0.82[AMR][1000 genomes]
rs9461540	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv527037	chr6:29615822-29624112	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29617800-29622800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:29618000-29623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:29618000-29624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:29618400-29621200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:29618400-29621200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:29618400-29621200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:29618400-29621200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:29618400-29621200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:29618400-29621200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:29618400-29621600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:29618400-29621600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:29618400-29623200	Weak transcription	Left Ventricle	heart
13	chr6:29618400-29623200	Weak transcription	GM12878-XiMat	blood
14	chr6:29618400-29623400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:29618400-29624000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:29618400-29624000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:29618400-29624600	Weak transcription	Right Atrium	heart
18	chr6:29618400-29629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:29618400-29629600	Weak transcription	Right Ventricle	heart
20	chr6:29618600-29621200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:29618600-29623200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:29618600-29624600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:29619800-29621200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:29619800-29621600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:29619800-29623200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:29620000-29621600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:29620000-29628800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:29620000-29631200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:29620200-29621800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:29620200-29622800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:29620200-29622800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:29620200-29624200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:29620600-29626600	Enhancers	Fetal Heart	heart
34	chr6:29620800-29621400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:29620800-29623200	Enhancers	Brain Hippocampus Middle	brain
36	chr6:29620800-29624000	Enhancers	Brain Angular Gyrus	brain
37	chr6:29621000-29621200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr6:29621000-29621400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr6:29621000-29621400	Weak transcription	Brain Anterior Caudate	brain
40	chr6:29621000-29624000	Enhancers	Brain Substantia Nigra	brain
41	chr6:29621000-29625000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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