Variant report

Variant	rs13222212
Chromosome Location	chr7:128084697-128084698
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	GATA3	chr7:128083913-128085115	T-47D	breast:	n/a	chr7:128084297-128084308 chr7:128084781-128084792
2	TCF12	chr7:128084216-128085239	MCF-7	breast:	n/a	n/a
3	ZEB1	chr7:128084371-128084698	GM12878	blood:	n/a	chr7:128084616-128084627
4	HDAC2	chr7:128084207-128085172	MCF-7	breast:	n/a	n/a
5	ESR1	chr7:128083788-128084700	T-47D	breast:	n/a	chr7:128084259-128084276 chr7:128083970-128083987 chr7:128083969-128083986
6	HA-E2F1	chr7:128084090-128084753	MCF-7	breast:	n/a	n/a
7	MAX	chr7:128084114-128085117	MCF-7	breast:	n/a	n/a
8	BHLHE40	chr7:128084382-128084806	GM12878	blood:	n/a	n/a
9	ZNF143	chr7:128084426-128084858	GM12878	blood:	n/a	chr7:128084663-128084678
10	JUND	chr7:128084279-128085136	T-47D	breast:	n/a	chr7:128084457-128084468
11	GATA3	chr7:128084002-128085198	MCF-7	breast:	n/a	chr7:128084297-128084308 chr7:128084781-128084792
12	NR2F2	chr7:128083732-128085175	MCF-7	breast:	n/a	chr7:128084265-128084280
13	EBF1	chr7:128084250-128084740	GM12878	blood:	n/a	chr7:128084473-128084484 chr7:128084510-128084521
14	FOXA1	chr7:128084208-128085152	T-47D	breast:	n/a	n/a
15	GATA3	chr7:128083927-128085178	T-47D	breast:	n/a	chr7:128084297-128084308 chr7:128084781-128084792
16	MAX	chr7:128084171-128084719	MCF-7	breast:	n/a	n/a
17	EP300	chr7:128083996-128085196	T-47D	breast:	n/a	n/a
18	EP300	chr7:128084143-128085182	T-47D	breast:	n/a	n/a
19	FOXA1	chr7:128084190-128085156	T-47D	breast:	n/a	n/a
20	ESR1	chr7:128083843-128084704	T-47D	breast:	n/a	chr7:128084259-128084276 chr7:128083970-128083987 chr7:128083969-128083986

No.	Distal block	Cell Line	Cell type
1	chr7:128071934..128079559-chr7:128081793..128086197,10	MCF-7	breast:
2	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
3	chr7:128081121..128082834-chr7:128084423..128086408,3	K562	blood:
4	chr7:128084340..128085860-chr7:128086520..128088329,2	MCF-7	breast:
5	chr7:128083686..128086427-chr7:128093165..128095584,3	K562	blood:
6	chr7:128070995..128071668-chr7:128083750..128084763,3	MCF-7	breast:

Variant related genes	Relation type
RNU7-54P	TF binding region
ENSG00000273184	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10954184	0.81[ASN][1000 genomes]
rs10954186	0.85[ASN][1000 genomes]
rs11765023	0.80[ASN][1000 genomes]
rs11765126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11773251	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11973781	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11977296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981766	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982673	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11983847	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12536006	0.86[ASN][1000 genomes]
rs12706850	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706851	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221784	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13227646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242340	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13312278	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2076805	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228075	0.85[ASN][1000 genomes]
rs34848853	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35649907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4566975	0.85[ASN][1000 genomes]
rs55826686	0.84[ASN][1000 genomes]
rs67076895	0.84[ASN][1000 genomes]
rs67091533	0.85[ASN][1000 genomes]
rs6975115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802305	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13222212	CICP14	cis	lung	GTEx
rs13222212	IMPDH1	cis	Adipose Subcutaneous	GTEx
rs13222212	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
4	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:128079400-128085800	Weak transcription	K562	blood
6	chr7:128081400-128085200	Enhancers	Fetal Intestine Large	intestine
7	chr7:128081400-128085600	Enhancers	Fetal Intestine Small	intestine
8	chr7:128083200-128085000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr7:128083400-128084800	Enhancers	A549	lung
10	chr7:128083400-128085800	Enhancers	Placenta	Placenta
11	chr7:128083600-128084800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:128083600-128084800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:128083600-128085000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:128083600-128085000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr7:128083800-128084800	Enhancers	Adipose Nuclei	Adipose
16	chr7:128083800-128085000	Enhancers	GM12878-XiMat	blood
17	chr7:128083800-128085000	Bivalent Enhancer	HepG2	liver
18	chr7:128083800-128085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:128083800-128085200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:128083800-128085200	Enhancers	NHEK	skin
21	chr7:128084000-128084800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:128084000-128084800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:128084000-128084800	Enhancers	HMEC	breast
24	chr7:128084000-128090000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:128084200-128085000	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:128084200-128086200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:128084400-128084800	Enhancers	Duodenum Mucosa	Duodenum
28	chr7:128084400-128086000	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:128084400-128088800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:128084600-128095800	Weak transcription	Gastric	stomach

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