Variant report

Variant	rs73674136
Chromosome Location	chr7:6616069-6616070
allele	C/T
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	POLR2A	chr7:6615362-6616459	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:6615953-6616449	HCT-116	colon:	n/a	n/a
3	NR3C1	chr7:6615808-6616258	A549	lung:	n/a	chr7:6616093-6616109 chr7:6616090-6616111 chr7:6616092-6616110 chr7:6616093-6616109 chr7:6616088-6616114 chr7:6616034-6616048 chr7:6616093-6616109 chr7:6616094-6616108 chr7:6616093-6616109 chr7:6616033-6616050
4	CBX3	chr7:6615924-6616720	K562	blood:	n/a	n/a
5	POLR2A	chr7:6615731-6616361	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:6615879-6617541	Raji	blood:	n/a	n/a
7	MXI1	chr7:6616049-6616106	Hela-S3	cervix:	n/a	n/a
8	HEY1	chr7:6615854-6616123	HepG2	liver:	n/a	n/a
9	NR3C1	chr7:6615973-6616176	A549	lung:	n/a	chr7:6616093-6616109 chr7:6616090-6616111 chr7:6616092-6616110 chr7:6616093-6616109 chr7:6616088-6616114 chr7:6616034-6616048 chr7:6616093-6616109 chr7:6616094-6616108 chr7:6616093-6616109 chr7:6616033-6616050
10	POLR2A	chr7:6615693-6616183	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:6615834-6617548	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:6615870-6616358	K562	blood:	n/a	n/a
13	POLR2A	chr7:6616049-6616471	HCT-116	colon:	n/a	n/a
14	POLR2A	chr7:6614876-6616489	HepG2	liver:	n/a	n/a
15	HEY1	chr7:6615854-6616306	K562	blood:	n/a	n/a
16	HEY1	chr7:6615263-6616491	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:6614858-6616471	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:6615758-6617850	K562	blood:	n/a	n/a
19	CTCF	chr7:6616020-6616170	GM12865	blood:	n/a	n/a
20	CTCF	chr7:6616000-6616150	A549	lung:	n/a	n/a
21	POLR2A	chr7:6615757-6616488	ECC-1	luminal epithelium:	n/a	n/a
22	MAFF	chr7:6616033-6616145	K562	blood:	n/a	n/a
23	MXI1	chr7:6615475-6617772	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr7:6615815-6616074	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr7:6615712-6616781	K562	blood:	n/a	n/a
26	POLR2A	chr7:6616028-6616267	ProgFib	skin:	n/a	n/a
27	POLR2A	chr7:6614908-6619352	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:6615609-6616309	HepG2	liver:	n/a	n/a
29	NR3C1	chr7:6615753-6616295	A549	lung:	n/a	chr7:6616093-6616109 chr7:6616090-6616111 chr7:6616092-6616110 chr7:6616093-6616109 chr7:6616088-6616114 chr7:6616034-6616048 chr7:6616093-6616109 chr7:6616094-6616108 chr7:6616093-6616109 chr7:6616033-6616050
30	RFX5	chr7:6615965-6616143	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6615537..6618663-chr7:6638717..6641799,3	K562	blood:
2	chr7:6615687..6618664-chr7:6627812..6632591,8	MCF-7	breast:
3	chr7:6614342..6622557-chr7:6625132..6631922,18	K562	blood:
4	chr7:6614289..6616112-chr7:6628784..6631190,2	K562	blood:
5	chr7:5921888..5923776-chr7:6615172..6617060,2	K562	blood:
6	chr7:6486176..6487864-chr7:6615659..6618201,2	MCF-7	breast:
7	chr7:6521171..6524635-chr7:6615181..6617344,3	K562	blood:
8	chr7:6615703..6619364-chr7:6676501..6679314,4	K562	blood:
9	chr7:6536495..6538201-chr7:6614810..6616911,2	K562	blood:

Variant related genes	Relation type
ZDHHC4	TF binding region
ENSG00000232581	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000164535	Chromatin interaction
ENSG00000269781	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10228227	1.00[AMR][1000 genomes]
rs57439768	1.00[AMR][1000 genomes]
rs73674132	1.00[AMR][1000 genomes]
rs73674135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674142	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6578600-6616200	Weak transcription	Right Atrium	heart
2	chr7:6611400-6616600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:6612200-6616200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:6614400-6616400	Weak transcription	HSMMtube	muscle
5	chr7:6615200-6616200	Weak transcription	Ovary	ovary
6	chr7:6615400-6616400	Flanking Active TSS	HepG2	liver
7	chr7:6615600-6616200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:6615600-6616200	Enhancers	NHDF-Ad	bronchial
9	chr7:6615800-6616200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:6615800-6616200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:6615800-6616200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:6615800-6616200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:6615800-6616200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:6615800-6616200	Enhancers	Spleen	Spleen
15	chr7:6615800-6616400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:6615800-6616400	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:6615800-6616400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:6615800-6616400	Enhancers	Fetal Muscle Leg	muscle
19	chr7:6615800-6616400	Enhancers	Pancreas	Pancrea
20	chr7:6615800-6616400	Enhancers	Right Ventricle	heart
21	chr7:6615800-6616400	Flanking Active TSS	Hela-S3	cervix
22	chr7:6615800-6616400	Flanking Active TSS	K562	blood
23	chr7:6615800-6616600	Flanking Active TSS	Dnd41	blood
24	chr7:6616000-6616200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:6616000-6616200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:6616000-6616200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:6616000-6616200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:6616000-6616200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:6616000-6616200	Enhancers	Brain Substantia Nigra	brain
30	chr7:6616000-6616200	Active TSS	Colonic Mucosa	Colon
31	chr7:6616000-6616200	Enhancers	Fetal Brain Female	brain
32	chr7:6616000-6616200	Enhancers	Left Ventricle	heart
33	chr7:6616000-6616200	Enhancers	Psoas Muscle	Psoas
34	chr7:6616000-6616200	Flanking Active TSS	A549	lung
35	chr7:6616000-6616400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:6616000-6616400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:6616000-6616400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:6616000-6616400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:6616000-6616400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:6616000-6616400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr7:6616000-6616400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:6616000-6616400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:6616000-6616400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:6616000-6616400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:6616000-6616400	Enhancers	Adipose Nuclei	Adipose
46	chr7:6616000-6616400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr7:6616000-6616400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr7:6616000-6616400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr7:6616000-6616400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:6616000-6616400	Enhancers	Esophagus	oesophagus

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