Variant report

Variant	rs12120702
Chromosome Location	chr1:224544031-224544032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr1:224543347-224545745	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr1:224544014-224545855	IMR90	lung:	n/a	n/a
3	NR2F2	chr1:224543886-224545975	K562	blood:	n/a	n/a
4	SREBP1	chr1:224543489-224545007	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224528975..224532338-chr1:224541098..224544452,3	K562	blood:
2	chr1:224516510..224520785-chr1:224542312..224545237,4	MCF-7	breast:
3	chr1:224543721..224546086-chr1:224562908..224565121,2	MCF-7	breast:
4	chr1:224543329..224547108-chr1:224619239..224622996,5	MCF-7	breast:
5	chr1:224537550..224539289-chr1:224541937..224544378,2	K562	blood:
6	chr1:224514132..224518075-chr1:224542843..224545822,3	K562	blood:

No data

Variant related genes	Relation type
CNIH4	TF binding region
ENSG00000143748	Chromatin interaction
ENSG00000143771	Chromatin interaction
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10495220	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12075578	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121977	0.87[ASN][1000 genomes]
rs12124686	0.87[ASN][1000 genomes]
rs12128292	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134167	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140423	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684878	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758316	0.94[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224536800-224544200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:224536800-224544400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:224536800-224544600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:224538400-224544400	Weak transcription	Right Atrium	heart
5	chr1:224540600-224544400	Enhancers	Fetal Intestine Small	intestine
6	chr1:224540800-224544400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:224540800-224544400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:224540800-224544400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:224541200-224544200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:224541200-224544400	Enhancers	Fetal Intestine Large	intestine
11	chr1:224542400-224544200	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:224542400-224544400	Weak transcription	Primary T cells from cord blood	blood
13	chr1:224543000-224544600	Enhancers	Small Intestine	intestine
14	chr1:224543200-224544200	Weak transcription	HepG2	liver
15	chr1:224543200-224544200	Weak transcription	K562	blood
16	chr1:224543800-224544200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr1:224543800-224544400	Weak transcription	Colonic Mucosa	Colon
18	chr1:224544000-224544200	Enhancers	Dnd41	blood
19	chr1:224544000-224544400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:224544000-224544400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:224544000-224544400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:224544000-224544400	Enhancers	Liver	Liver
23	chr1:224544000-224546400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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