Variant report

Variant	rs541946501
Chromosome Location	chr7:102467775-102467776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102466773..102468562-chr7:102472761..102475356,2	MCF-7	breast:
2	chr7:102459925..102462268-chr7:102466191..102467871,2	K562	blood:

Variant related genes	Relation type
ENSG00000252643	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102421600-102475600	Weak transcription	Fetal Thymus	thymus
2	chr7:102422000-102474800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:102422000-102476000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:102445600-102469200	Weak transcription	Fetal Brain Male	brain
5	chr7:102447000-102469400	Weak transcription	Brain Angular Gyrus	brain
6	chr7:102447200-102469400	Weak transcription	Fetal Brain Female	brain
7	chr7:102447400-102477200	Weak transcription	Psoas Muscle	Psoas
8	chr7:102447800-102473000	Weak transcription	Placenta	Placenta
9	chr7:102448000-102469200	Weak transcription	Right Ventricle	heart
10	chr7:102448000-102479000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:102448200-102470800	Weak transcription	Small Intestine	intestine
12	chr7:102448400-102471800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:102449600-102469400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:102450000-102475000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:102450200-102475600	Weak transcription	Esophagus	oesophagus
16	chr7:102452000-102480000	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:102452200-102472800	Weak transcription	HSMMtube	muscle
18	chr7:102452400-102469400	Weak transcription	Adipose Nuclei	Adipose
19	chr7:102454000-102467800	Weak transcription	Fetal Kidney	kidney
20	chr7:102454200-102469400	Weak transcription	HepG2	liver
21	chr7:102454200-102484600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:102454400-102469600	Weak transcription	Aorta	Aorta
23	chr7:102454400-102475000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:102454600-102475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:102454600-102475600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:102454800-102473200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:102455000-102467800	Weak transcription	HMEC	breast
28	chr7:102455000-102469600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:102455000-102475000	Weak transcription	NHLF	lung
30	chr7:102455000-102475000	Weak transcription	Osteobl	bone
31	chr7:102455200-102469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:102455200-102472800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:102455600-102469200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:102455600-102473200	Weak transcription	HSMM	muscle
35	chr7:102456000-102469200	Weak transcription	Pancreas	Pancrea
36	chr7:102456000-102469600	Weak transcription	NHEK	skin
37	chr7:102456600-102469200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:102456800-102469600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:102459800-102481800	Weak transcription	Brain Substantia Nigra	brain
40	chr7:102460000-102469400	Weak transcription	Fetal Heart	heart
41	chr7:102460000-102474800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:102460000-102475000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:102460200-102469200	Weak transcription	Spleen	Spleen
44	chr7:102460200-102475200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:102460400-102467800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:102460400-102474600	Weak transcription	HUVEC	blood vessel
47	chr7:102460400-102477000	Weak transcription	Stomach Mucosa	stomach
48	chr7:102460400-102480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:102460800-102469200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:102460800-102469400	Weak transcription	Gastric	stomach

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