Variant report

Variant	rs541695616
Chromosome Location	chr7:6654866-6654867
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	SIN3A	chr7:6654375-6655138	H1-hESC	embryonic stem cell:	n/a	chr7:6654747-6654760
2	MAX	chr7:6654678-6655267	H1-hESC	embryonic stem cell:	n/a	n/a
3	HDAC2	chr7:6654702-6655124	HepG2	liver:	n/a	n/a
4	CTCF	chr7:6654840-6654990	NB4	blood:	n/a	chr7:6654884-6654902
5	ZBTB7A	chr7:6654837-6654962	HepG2	liver:	n/a	n/a
6	HEY1	chr7:6654464-6655044	HepG2	liver:	n/a	chr7:6655007-6655022
7	YY1	chr7:6654788-6655268	HepG2	liver:	n/a	chr7:6655031-6655045 chr7:6654857-6654868
8	MAX	chr7:6654395-6656258	HepG2	liver:	n/a	chr7:6656029-6656038
9	TBP	chr7:6654752-6654942	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr7:6654780-6655042	HepG2	liver:	n/a	n/a
11	MAX	chr7:6654760-6655153	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr7:6654466-6655108	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr7:6654606-6655130	HepG2	liver:	n/a	n/a
14	CTCF	chr7:6654829-6654916	Spleen_OC	spleen:	n/a	chr7:6654884-6654902
15	POLR2A	chr7:6654861-6655346	H1-neurons	neurons:	n/a	n/a
16	MAX	chr7:6654600-6655165	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr7:6654852-6654989	GM12891	blood:	n/a	chr7:6654884-6654902
18	CTCF	chr7:6654840-6654990	HUVEC	blood vessel:	n/a	chr7:6654884-6654902
19	CTCF	chr7:6654840-6654990	SK-N-SH_RA	brain:	n/a	chr7:6654884-6654902
20	ZBTB7A	chr7:6654458-6655228	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr7:6654820-6654970	AG04450	lung:	n/a	chr7:6654884-6654902
22	CTCF	chr7:6654760-6654910	SK-N-SH_RA	brain:	n/a	chr7:6654884-6654902
23	ZNF143	chr7:6654457-6655080	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZBTB7A	chr7:6654235-6655156	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr7:6654843-6654940	H1-hESC	embryonic stem cell:	n/a	chr7:6654884-6654902
26	CTCF	chr7:6654800-6654950	GM12866	blood:	n/a	chr7:6654884-6654902
27	CTCF	chr7:6654820-6654970	HEK293	kidney:	n/a	chr7:6654884-6654902
28	GABPA	chr7:6654833-6655342	HepG2	liver:	n/a	n/a
29	MXI1	chr7:6654021-6656600	SK-N-SH	brain:	n/a	n/a
30	MAX	chr7:6654637-6655269	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:6654780-6654930	WERI-Rb-1	eye:	n/a	chr7:6654884-6654902

No.	Distal block	Cell Line	Cell type
1	chr7:6654514..6658630-chr7:6675114..6678876,5	MCF-7	breast:
2	chr7:6652722..6654943-chr7:6655850..6658545,2	K562	blood:
3	chr7:6652934..6655791-chr7:6675915..6678392,2	MCF-7	breast:
4	chr7:6644575..6647418-chr7:6652621..6655088,2	K562	blood:
5	chr7:6628726..6630315-chr7:6654459..6656349,2	MCF-7	breast:
6	chr7:6628238..6630542-chr7:6653702..6656593,2	MCF-7	breast:

Variant related genes	Relation type
ZNF853	TF binding region
ENSG00000205903	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000232581	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 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
26	nsv887438	chr7:6652740-6709600	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	esv3444368	chr7:6654052-6656600	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6654000-6656200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:6654200-6655000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr7:6654400-6655000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:6654400-6655000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr7:6654400-6655000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:6654400-6655000	Enhancers	Fetal Brain Male	brain
7	chr7:6654400-6655000	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr7:6654400-6655000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
9	chr7:6654400-6655000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr7:6654400-6655000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr7:6654400-6655800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:6654400-6655800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:6654400-6656000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:6654400-6656200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:6654400-6656200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr7:6654600-6655000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:6654600-6655000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:6654600-6655000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:6654600-6655000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr7:6654600-6655000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
22	chr7:6654600-6655000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
24	chr7:6654600-6655000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr7:6654600-6655000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
28	chr7:6654600-6655000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:6654600-6655000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:6654600-6655000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr7:6654600-6655000	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr7:6654600-6655000	Flanking Active TSS	Esophagus	oesophagus
40	chr7:6654600-6655000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr7:6654600-6655000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr7:6654600-6655000	Flanking Active TSS	Gastric	stomach
43	chr7:6654600-6655000	Flanking Active TSS	Ovary	ovary
44	chr7:6654600-6655000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
45	chr7:6654600-6655000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr7:6654600-6655000	Flanking Active TSS	Thymus	Thymus
47	chr7:6654600-6655000	Bivalent/Poised TSS	NH-A	brain
48	chr7:6654600-6655200	Flanking Bivalent TSS/Enh	Dnd41	blood
49	chr7:6654600-6655600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:6654600-6655600	Active TSS	Brain Cingulate Gyrus	brain

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