Variant report

Variant	rs34941217
Chromosome Location	chr1:196619336-196619337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:196619240-196619390	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr1:196619280-196619430	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:196619125-196619357	K562	blood:	n/a	n/a
4	YY1	chr1:196619201-196619496	K562	blood:	n/a	n/a
5	POLR2A	chr1:196619314-196619463	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:196619087-196619377	MCF-7	breast:	n/a	n/a
7	RCOR1	chr1:196619132-196619683	K562	blood:	n/a	n/a
8	YY1	chr1:196619171-196619457	K562	blood:	n/a	n/a
9	CBX3	chr1:196619084-196619803	K562	blood:	n/a	n/a
10	HCFC1	chr1:196619188-196619408	K562	blood:	n/a	n/a
11	UBTF	chr1:196619334-196619382	K562	blood:	n/a	n/a
12	CTCF	chr1:196619311-196619393	MCF-7	breast:	n/a	n/a
13	MYC	chr1:196619206-196619432	K562	blood:	n/a	n/a
14	HEY1	chr1:196619109-196619437	K562	blood:	n/a	n/a
15	CTCF	chr1:196619240-196619390	WERI-Rb-1	eye:	n/a	n/a
16	POLR2A	chr1:196619105-196619418	K562	blood:	n/a	n/a
17	JUND	chr1:196619178-196619705	K562	blood:	n/a	n/a
18	MAFF	chr1:196619156-196619446	K562	blood:	n/a	n/a
19	TAF1	chr1:196619114-196619524	K562	blood:	n/a	n/a
20	ZMIZ1	chr1:196619266-196619405	K562	blood:	n/a	n/a
21	POLR2A	chr1:196619139-196619380	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:196619124-196619493	K562	blood:	n/a	n/a
23	RCOR1	chr1:196619261-196619585	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr1:196619320-196619470	K562	blood:	n/a	n/a
25	MAZ	chr1:196619126-196619780	K562	blood:	n/a	n/a
26	MAFK	chr1:196619127-196619560	K562	blood:	n/a	n/a
27	POLR2A	chr1:196619114-196619392	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:196619144-196619438	K562	blood:	n/a	n/a
29	TAF1	chr1:196619109-196619346	K562	blood:	n/a	n/a
30	TBP	chr1:196619064-196619586	K562	blood:	n/a	n/a
31	TBL1XR1	chr1:196619319-196619524	K562	blood:	n/a	n/a
32	RCOR1	chr1:196619152-196619655	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196618602..196620905-chr1:196624002..196626095,2	K562	blood:
2	chr1:196030521..196032166-chr1:196617172..196619617,2	K562	blood:

No data

Variant related genes	Relation type
CFH	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16840379	0.97[AFR][1000 genomes]
rs35836460	0.97[AFR][1000 genomes]
rs6428356	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673106	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7524776	0.95[AFR][1000 genomes]
rs7551203	0.81[AFR][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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619000-196619400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr1:196619000-196619400	Active TSS	K562	blood
3	chr1:196619000-196619600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:196619000-196619800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:196619000-196619800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:196619000-196619800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:196619000-196619800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:196619000-196621400	Active TSS	Hela-S3	cervix
9	chr1:196619200-196619600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr1:196619200-196619800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:196619200-196619800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:196619200-196619800	Enhancers	Fetal Thymus	thymus
13	chr1:196619200-196619800	Enhancers	Psoas Muscle	Psoas
14	chr1:196619200-196619800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:196619200-196620000	Active TSS	HSMM	muscle
16	chr1:196619200-196621000	Flanking Active TSS	Dnd41	blood

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