Variant report

Variant	rs35627324
Chromosome Location	chr7:100859494-100859495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:100859033-100862531	SK-N-SH	brain:	n/a	chr7:100861332-100861347

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100859461-100859511	HCT-116	colon:	n/a
2	chr7:100859461-100859511	SK-N-SH_RA	brain:	n/a
3	chr7:100859461-100859511	HIPEpiC	eye:	n/a
4	chr7:100859461-100859511	AG04450	lung:	fetal
5	chr7:100859461-100859511	SK-N-MC	brain:	n/a
6	chr7:100859461-100859511	HUVEC	blood vessel:	n/a
7	chr7:100859461-100859511	MCF10A-Er-Src	breast:	n/a
8	chr7:100859461-100859511	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:100859461-100859511	IMR90	lung:	fetal
10	chr7:100859461-100859511	GM12878	blood:	n/a
11	chr7:100859461-100859511	LNCaP	prostate:	n/a
12	chr7:100859461-100859511	HMEC	breast:	n/a
13	chr7:100859461-100859511	BE2_C	brain:	n/a
14	chr7:100859461-100859511	HRE	kidney:	n/a
15	chr7:100859461-100859511	SK-N-SH	brain:	n/a
16	chr7:100859461-100859511	GM19239	blood:	n/a
17	chr7:100859461-100859511	HCF	heart:	n/a
18	chr7:100859461-100859511	Jurkat	blood:	n/a
19	chr7:100859461-100859511	Caco-2	colon:	n/a
20	chr7:100859461-100859511	A549	lung:	n/a
21	chr7:100859461-100859511	RPTEC	kidney:	n/a
22	chr7:100859461-100859511	H1-hESC	embryonic stem cell:	embryo
23	chr7:100859461-100859511	BJ	skin:	n/a
24	chr7:100859461-100859511	HRCEpiC	kidney:	n/a
25	chr7:100859461-100859511	AG09319	gingival:	n/a
26	chr7:100859461-100859511	HCPEpiC	choroid plexus:	n/a
27	chr7:100859461-100859511	NHBE	bronchial:	n/a
28	chr7:100859461-100859511	MCF-7	breast:	n/a
29	chr7:100859461-100859511	HEK293	kidney:	embryo
30	chr7:100859461-100859511	CMK	blood:	n/a
31	chr7:100859461-100859511	GM12891	blood:	n/a
32	chr7:100859461-100859511	AoSMC	blood vessel:	n/a
33	chr7:100859461-100859511	PrEC	prostate:	n/a
34	chr7:100859461-100859511	SKMC	muscle:	n/a
35	chr7:100859461-100859511	PANC-1	pancreas:	n/a
36	chr7:100859461-100859511	HAEpiC	amniotic membrane:	n/a
37	chr7:100859461-100859511	GM06990	blood:	n/a
38	chr7:100859461-100859511	Hela-S3	cervix:	n/a
39	chr7:100859461-100859511	HRPEpiC	eye:	n/a
40	chr7:100859461-100859511	PFSK-1	brain:	n/a
41	chr7:100859461-100859511	SAEC	small airway:	n/a
42	chr7:100859461-100859511	AG09309	skin:	n/a
43	chr7:100859461-100859511	GM12892	blood:	n/a
44	chr7:100859461-100859511	NT2-D1	testis:	n/a
45	chr7:100859461-100859511	HEEpiC	esophagus:	n/a
46	chr7:100859461-100859511	HepG2	liver:	n/a
47	chr7:100859461-100859511	NHDF-neo	bronchial:	n/a
48	chr7:100859461-100859511	K562	blood:	n/a
49	chr7:100859461-100859511	AG04449	skin:	fetal
50	chr7:100859461-100859511	ProgFib	skin:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100859374..100863045-chr7:100885733..100890781,8	K562	blood:
2	chr7:100859404..100861068-chr7:100894037..100896793,2	MCF-7	breast:
3	chr7:100858946..100862708-chr7:100892771..100897292,5	MCF-7	breast:
4	chr7:100858331..100862020-chr7:100880126..100882464,3	K562	blood:
5	chr7:100808076..100812812-chr7:100858488..100864832,8	MCF-7	breast:
6	chr7:100859409..100862433-chr7:100893851..100895703,4	K562	blood:
7	chr7:100858977..100861910-chr7:100881462..100883229,2	K562	blood:
8	chr7:100843889..100849523-chr7:100857776..100861352,9	MCF-7	breast:
9	chr7:100491458..100494589-chr7:100859109..100862606,4	MCF-7	breast:
10	chr7:100853413..100857189-chr7:100859048..100862216,5	K562	blood:
11	chr7:100858478..100862757-chr7:100884994..100890276,15	MCF-7	breast:
12	chr7:100859400..100864017-chr7:100886115..100890578,15	K562	blood:
13	chr7:100850699..100858131-chr7:100858977..100863722,10	K562	blood:

No data

Variant related genes	Relation type
ZNHIT1	TF binding region
PLOD3	TF binding region
ZNHIT1	CpG island
PLOD3	CpG island
ENSG00000087085	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000205267	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000106404	Chromatin interaction
ENSG00000213394	Chromatin interaction
ENSG00000106384	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28693845	1.00[CHD][hapmap]

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	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv888816	chr7:100792810-100862264	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv607975	chr7:100804140-100873835	Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
20	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
21	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100845800-100859600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:100847000-100859800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:100847000-100859800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:100847800-100859600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:100847800-100859800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:100851200-100859600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:100851400-100859800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:100853800-100859600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:100855000-100860000	Weak transcription	Primary T cells from cord blood	blood
10	chr7:100855200-100859600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:100855200-100859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:100855400-100859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:100855400-100859600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:100855400-100859800	Weak transcription	HSMMtube	muscle
15	chr7:100855600-100859600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:100855600-100859600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:100856200-100859600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:100856400-100859800	Weak transcription	Esophagus	oesophagus
19	chr7:100856600-100859600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:100856800-100859600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:100856800-100860000	Weak transcription	Aorta	Aorta
22	chr7:100856800-100860000	Weak transcription	Thymus	Thymus
23	chr7:100857200-100859600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:100857200-100859800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:100857600-100860400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:100858000-100859800	Enhancers	Liver	Liver
27	chr7:100858000-100859800	Genic enhancers	Fetal Muscle Leg	muscle
28	chr7:100858200-100859600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:100858200-100859600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:100858200-100859600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:100858200-100859600	Genic enhancers	Fetal Brain Female	brain
32	chr7:100858200-100859600	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr7:100858200-100859800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:100858400-100859600	Enhancers	Brain Germinal Matrix	brain
35	chr7:100858400-100859600	Weak transcription	Fetal Heart	heart
36	chr7:100858400-100859600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:100858400-100859800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:100858600-100859600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:100858600-100859600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:100858600-100859800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:100858800-100860000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:100859000-100859600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:100859000-100859600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:100859000-100859600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:100859000-100859600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
46	chr7:100859000-100859600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:100859000-100859600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:100859000-100859600	Genic enhancers	Brain Angular Gyrus	brain
49	chr7:100859000-100859600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:100859000-100859600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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