Variant report

Variant	rs530669876
Chromosome Location	chr7:2755961-2755962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2747802..2752072-chr7:2752381..2756617,8	K562	blood:
2	chr7:2751778..2761552-chr7:2768388..2775125,13	K562	blood:
3	chr7:2695858..2698224-chr7:2755632..2757966,2	K562	blood:
4	chr7:2724386..2733394-chr7:2753206..2761980,25	MCF-7	breast:
5	chr7:2593899..2596439-chr7:2755739..2757666,2	K562	blood:
6	chr7:2650921..2653062-chr7:2755839..2758657,2	MCF-7	breast:
7	chr7:2729178..2731029-chr7:2755632..2757456,2	MCF-7	breast:
8	chr7:2755108..2758694-chr7:2796336..2799311,5	K562	blood:
9	chr7:2755108..2759929-chr7:2796424..2799629,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction
ENSG00000106009	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471227	chr7:2629020-2768864	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv887309	chr7:2664214-2763102	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv887312	chr7:2707822-2763102	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1017611	chr7:2750418-2781716	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv538654	chr7:2750418-2781716	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv971480	chr7:2755767-2765866	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	5 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	chr7:2742200-2765600	Weak transcription	HSMM	muscle
2	chr7:2749000-2760800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:2749400-2770600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:2749800-2757600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:2749800-2758000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:2749800-2759800	Weak transcription	HMEC	breast
7	chr7:2749800-2770800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:2750000-2757200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:2750000-2757400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:2750000-2760400	Weak transcription	Hela-S3	cervix
11	chr7:2750000-2760800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:2750000-2762800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:2750000-2765600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:2750000-2767800	Weak transcription	Osteobl	bone
15	chr7:2750000-2768400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:2750000-2769000	Weak transcription	NHDF-Ad	bronchial
17	chr7:2750200-2756200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:2750200-2757600	Weak transcription	HepG2	liver
19	chr7:2750200-2757800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:2750200-2765800	Weak transcription	Liver	Liver
21	chr7:2751000-2756200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:2751000-2756200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:2751000-2756400	Weak transcription	Esophagus	oesophagus
24	chr7:2751000-2756600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:2751000-2756600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:2751000-2759000	Enhancers	Fetal Heart	heart
27	chr7:2751000-2764400	Weak transcription	Brain Germinal Matrix	brain
28	chr7:2751200-2756600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:2751200-2768400	Weak transcription	Brain Angular Gyrus	brain
30	chr7:2751800-2757800	Enhancers	Left Ventricle	heart
31	chr7:2752400-2758400	Genic enhancers	Placenta	Placenta
32	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:2752800-2757600	Enhancers	Fetal Muscle Trunk	muscle
34	chr7:2753200-2756200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:2753200-2756800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:2753400-2760400	Weak transcription	Aorta	Aorta
37	chr7:2753400-2765800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:2753600-2756000	Genic enhancers	Fetal Lung	lung
39	chr7:2753600-2759200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:2753600-2768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:2753800-2756200	Weak transcription	Lung	lung
42	chr7:2753800-2757000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:2753800-2758200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:2753800-2760400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:2754000-2756600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:2754000-2756800	Weak transcription	HUVEC	blood vessel
47	chr7:2754000-2757800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:2754000-2758600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr7:2754000-2759400	Enhancers	Primary B cells from cord blood	blood
50	chr7:2754200-2756600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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