Variant report

Variant	rs61247228
Chromosome Location	chr7:6651787-6651788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6651748-6651798	NHDF-neo	bronchial:	n/a
2	chr7:6651748-6651798	HMEC	breast:	n/a
3	chr7:6651748-6651798	U87	brain:	n/a
4	chr7:6651748-6651798	HRCEpiC	kidney:	n/a
5	chr7:6651748-6651798	AoSMC	blood vessel:	n/a
6	chr7:6651748-6651798	NT2-D1	testis:	n/a
7	chr7:6651748-6651798	HPAEpiC	pulmonary alveolar:	n/a
8	chr7:6651748-6651798	AG09319	gingival:	n/a
9	chr7:6651748-6651798	GM12891	blood:	n/a
10	chr7:6651748-6651798	GM12892	blood:	n/a
11	chr7:6651748-6651798	MCF-7	breast:	n/a
12	chr7:6651748-6651798	HRPEpiC	eye:	n/a
13	chr7:6651748-6651798	HCF	heart:	n/a
14	chr7:6651748-6651798	ovcar-3	ovarian:	n/a
15	chr7:6651748-6651798	HEK293	kidney:	embryo
16	chr7:6651748-6651798	PANC-1	pancreas:	n/a
17	chr7:6651748-6651798	HepG2	liver:	n/a
18	chr7:6651748-6651798	AG10803	skin:	n/a
19	chr7:6651748-6651798	HIPEpiC	eye:	n/a
20	chr7:6651748-6651798	ProgFib	skin:	n/a
21	chr7:6651748-6651798	GM12878	blood:	n/a
22	chr7:6651748-6651798	A549	lung:	n/a
23	chr7:6651748-6651798	HEEpiC	esophagus:	n/a
24	chr7:6651748-6651798	K562	blood:	n/a
25	chr7:6651748-6651798	IMR90	lung:	fetal
26	chr7:6651748-6651798	HCT-116	colon:	n/a
27	chr7:6651748-6651798	HCM	heart:	n/a
28	chr7:6651748-6651798	AG09309	skin:	n/a
29	chr7:6651748-6651798	HRE	kidney:	n/a
30	chr7:6651748-6651798	SKMC	muscle:	n/a
31	chr7:6651748-6651798	GM19239	blood:	n/a
32	chr7:6651748-6651798	Hela-S3	cervix:	n/a
33	chr7:6651748-6651798	HAEpiC	amniotic membrane:	n/a
34	chr7:6651748-6651798	NHBE	bronchial:	n/a
35	chr7:6651748-6651798	NH-A	brain:	n/a
36	chr7:6651748-6651798	SK-N-SH	brain:	n/a
37	chr7:6651748-6651798	GM06990	blood:	n/a
38	chr7:6651748-6651798	MCF10A-Er-Src	breast:	n/a
39	chr7:6651748-6651798	BE2_C	brain:	n/a
40	chr7:6651748-6651798	AG04449	skin:	fetal
41	chr7:6651748-6651798	HNPCEpiC	eye:	n/a
42	chr7:6651748-6651798	Jurkat	blood:	n/a
43	chr7:6651748-6651798	H1-hESC	embryonic stem cell:	embryo
44	chr7:6651748-6651798	SAEC	small airway:	n/a
45	chr7:6651748-6651798	RPTEC	kidney:	n/a
46	chr7:6651748-6651798	HCPEpiC	choroid plexus:	n/a
47	chr7:6651748-6651798	Caco-2	colon:	n/a
48	chr7:6651748-6651798	ECC-1	luminal epithelium:	n/a
49	chr7:6651748-6651798	NB4	blood:	n/a
50	chr7:6651748-6651798	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6650218..6651893-chr7:6687593..6690254,2	K562	blood:
2	chr7:6629736..6633407-chr7:6648974..6652007,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF853	CpG island
ENSG00000146576	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56757337	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56851516	0.97[EUR][1000 genomes]
rs56996912	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60473522	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61068758	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61121531	0.88[EUR][1000 genomes]
rs6973331	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7790579	0.97[EUR][1000 genomes]
rs7806778	0.87[EUR][1000 genomes]
rs7808982	0.97[EUR][1000 genomes]
rs7811617	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
19	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	esv1797143	chr7:6628177-6705439	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv606004	chr7:6643664-6692573	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv887437	chr7:6645281-6704332	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6636000-6654600	Weak transcription	Psoas Muscle	Psoas
2	chr7:6637800-6653000	Weak transcription	HMEC	breast
3	chr7:6637800-6653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:6640600-6653400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:6642000-6654400	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:6642000-6654400	Weak transcription	Fetal Brain Male	brain
7	chr7:6642400-6651800	Weak transcription	K562	blood
8	chr7:6642400-6654600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:6642600-6653600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:6642600-6654400	Weak transcription	Fetal Kidney	kidney
11	chr7:6642600-6654400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:6642600-6654600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:6642800-6652400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:6642800-6654600	Weak transcription	HSMM	muscle
15	chr7:6643600-6653400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:6644000-6652000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:6644200-6653600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:6644200-6653600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:6644400-6654400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:6644400-6654400	Weak transcription	Brain Substantia Nigra	brain
21	chr7:6644600-6653600	Weak transcription	HepG2	liver
22	chr7:6644600-6654400	Weak transcription	Fetal Lung	lung
23	chr7:6644800-6654400	Weak transcription	Ovary	ovary
24	chr7:6645200-6654200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:6645800-6654200	Weak transcription	Primary B cells from cord blood	blood
26	chr7:6646200-6654400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:6646400-6652200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:6646600-6653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:6646600-6654400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:6647400-6654400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:6648000-6654400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:6648200-6652400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:6648200-6654200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:6648200-6654400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:6648200-6654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:6648200-6654400	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:6648200-6654600	Weak transcription	Left Ventricle	heart
38	chr7:6648400-6652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:6648400-6652200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:6648400-6652200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:6648400-6652200	Weak transcription	Placenta	Placenta
42	chr7:6648400-6652400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:6648400-6652400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:6648400-6653000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:6648400-6653200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:6648400-6653200	Weak transcription	NHLF	lung
47	chr7:6648400-6653400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:6648400-6654400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:6648400-6654600	Weak transcription	Primary T cells from cord blood	blood
50	chr7:6648400-6654600	Weak transcription	Pancreas	Pancrea

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