Variant report

Variant	rs359660
Chromosome Location	chr7:127984438-127984439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr7:127983478-127984487	K562	blood:	n/a	n/a
2	BRCA1	chr7:127983689-127984548	Hela-S3	cervix:	n/a	n/a
3	JUN	chr7:127983780-127984603	K562	blood:	n/a	n/a
4	TFAP2C	chr7:127983713-127984449	Hela-S3	cervix:	n/a	n/a
5	TBL1XR1	chr7:127982961-127984447	K562	blood:	n/a	n/a
6	TRIM28	chr7:127983373-127984818	K562	blood:	n/a	n/a
7	ZC3H11A	chr7:127983505-127984542	K562	blood:	n/a	n/a
8	MAZ	chr7:127983344-127984532	IMR90	lung:	n/a	n/a
9	GABPA	chr7:127983217-127984698	MCF-7	breast:	n/a	n/a
10	RFX5	chr7:127982640-127984966	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:127983014-127984444	MCF10A-Er-Src	breast:	n/a	n/a
12	CBX3	chr7:127983292-127984836	K562	blood:	n/a	n/a
13	SMC3	chr7:127984428-127984471	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr7:127983382-127984443	PFSK-1	brain:	n/a	n/a
15	MXI1	chr7:127982002-127984736	SK-N-SH	brain:	n/a	n/a
16	MXI1	chr7:127982895-127984543	IMR90	lung:	n/a	n/a
17	YY1	chr7:127983446-127984491	SK-N-SH	brain:	n/a	chr7:127984032-127984042 chr7:127984066-127984080
18	KAP1	chr7:127983287-127984758	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:127984393-127984443	K562	blood:	n/a
2	chr7:127984393-127984443	T-47D	breast:	n/a
3	chr7:127984393-127984443	HCM	heart:	n/a
4	chr7:127984393-127984443	HUVEC	blood vessel:	n/a
5	chr7:127984393-127984443	CMK	blood:	n/a
6	chr7:127984393-127984443	ProgFib	skin:	n/a
7	chr7:127984393-127984443	HAEpiC	amniotic membrane:	n/a
8	chr7:127984393-127984443	LNCaP	prostate:	n/a
9	chr7:127984393-127984443	ovcar-3	ovarian:	n/a
10	chr7:127984393-127984443	Hela-S3	cervix:	n/a
11	chr7:127984393-127984443	AoSMC	blood vessel:	n/a
12	chr7:127984393-127984443	GM06990	blood:	n/a
13	chr7:127984393-127984443	BE2_C	brain:	n/a
14	chr7:127984393-127984443	MCF10A-Er-Src	breast:	n/a
15	chr7:127984393-127984443	SK-N-MC	brain:	n/a
16	chr7:127984393-127984443	Caco-2	colon:	n/a
17	chr7:127984393-127984443	NH-A	brain:	n/a
18	chr7:127984393-127984443	HRPEpiC	eye:	n/a
19	chr7:127984393-127984443	HCF	heart:	n/a
20	chr7:127984393-127984443	SK-N-SH	brain:	n/a
21	chr7:127984393-127984443	GM12878	blood:	n/a
22	chr7:127984393-127984443	NT2-D1	testis:	n/a
23	chr7:127984393-127984443	HL-60	blood:	n/a
24	chr7:127984393-127984443	HRCEpiC	kidney:	n/a
25	chr7:127984393-127984443	H1-hESC	embryonic stem cell:	embryo
26	chr7:127984393-127984443	HIPEpiC	eye:	n/a
27	chr7:127984393-127984443	BJ	skin:	n/a
28	chr7:127984393-127984443	HCPEpiC	choroid plexus:	n/a
29	chr7:127984393-127984443	GM12891	blood:	n/a
30	chr7:127984393-127984443	HNPCEpiC	eye:	n/a
31	chr7:127984393-127984443	PANC-1	pancreas:	n/a
32	chr7:127984393-127984443	MCF-7	breast:	n/a
33	chr7:127984393-127984443	SKMC	muscle:	n/a
34	chr7:127984393-127984443	PrEC	prostate:	n/a
35	chr7:127984393-127984443	Hepatocyte	liver:	n/a
36	chr7:127984393-127984443	HEEpiC	esophagus:	n/a
37	chr7:127984393-127984443	AG09309	skin:	n/a
38	chr7:127984393-127984443	SAEC	small airway:	n/a
39	chr7:127984393-127984443	RPTEC	kidney:	n/a
40	chr7:127984393-127984443	PFSK-1	brain:	n/a
41	chr7:127984393-127984443	A549	lung:	n/a
42	chr7:127984393-127984443	HepG2	liver:	n/a
43	chr7:127984393-127984443	HCT-116	colon:	n/a
44	chr7:127984393-127984443	HEK293	kidney:	embryo
45	chr7:127984393-127984443	NHDF-neo	bronchial:	n/a
46	chr7:127984393-127984443	GM19239	blood:	n/a
47	chr7:127984393-127984443	ECC-1	luminal epithelium:	n/a
48	chr7:127984393-127984443	NHBE	bronchial:	n/a
49	chr7:127984393-127984443	GM12892	blood:	n/a
50	chr7:127984393-127984443	AG04449	skin:	fetal

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:
2	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
3	chr7:127982050..127985267-chr7:128038524..128041227,4	K562	blood:
4	chr7:127983161..127986061-chr7:128377718..128379519,2	K562	blood:
5	chr7:127982483..127985267-chr7:128038524..128041227,3	K562	blood:
6	chr7:127982337..127986134-chr7:128031866..128036135,4	MCF-7	breast:
7	chr7:127982196..127985036-chr7:128048348..128051893,5	MCF-7	breast:
8	chr7:127981540..127985237-chr7:128094279..128097407,4	K562	blood:
9	chr7:127973213..127977895-chr7:127980902..127985287,5	MCF-7	breast:

No data

Variant related genes	Relation type
RBM28	TF binding region
RBM28	CpG island
ENSG00000135245	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000128595	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11554671	1.00[EUR][1000 genomes]
rs359662	1.00[EUR][1000 genomes]
rs61733109	1.00[EUR][1000 genomes]
rs6467173	1.00[EUR][1000 genomes]
rs6959976	1.00[EUR][1000 genomes]
rs7804286	1.00[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	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	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127982400-127984600	Active TSS	A549	lung
2	chr7:127983000-127984600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:127983200-127984600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr7:127983400-127984600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:127983400-127984600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:127983400-127984600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:127983600-127984600	Active TSS	Brain Angular Gyrus	brain
8	chr7:127983600-127984600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:127984000-127984600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:127984000-127985600	Weak transcription	Fetal Heart	heart
11	chr7:127984000-127986400	Weak transcription	Small Intestine	intestine
12	chr7:127984000-127989400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:127984200-127984600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:127984200-127984600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:127984200-127984600	Enhancers	Primary B cells from peripheral blood	blood
16	chr7:127984200-127984600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:127984200-127984600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:127984200-127984600	Enhancers	Colon Smooth Muscle	Colon
19	chr7:127984400-127984600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:127984400-127984600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:127984400-127984600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:127984400-127984600	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr7:127984400-127984600	Enhancers	Brain Cingulate Gyrus	brain
24	chr7:127984400-127984600	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:127984400-127984600	Enhancers	Fetal Intestine Small	intestine
26	chr7:127984400-127984600	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr7:127984400-127984600	Enhancers	Dnd41	blood
28	chr7:127984400-127984600	Flanking Active TSS	GM12878-XiMat	blood
29	chr7:127984400-127987600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:127984400-127987800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:127984400-127987800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:127984400-127987800	Weak transcription	Brain Germinal Matrix	brain
33	chr7:127984400-127987800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:127984400-127987800	Weak transcription	Fetal Muscle Leg	muscle

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