Variant report

Variant	rs56007918
Chromosome Location	chr7:2826205-2826206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2822854..2825744-chr7:2825933..2828348,2	MCF-7	breast:
2	chr7:2816808..2818862-chr7:2824374..2826830,2	K562	blood:
3	chr7:2820643..2823632-chr7:2824452..2826703,2	K562	blood:
4	chr7:2825414..2827300-chr7:2829208..2831201,2	K562	blood:
5	chr7:2802572..2804295-chr7:2824377..2826517,2	MCF-7	breast:
6	chr7:2825414..2828285-chr7:2829208..2832535,3	K562	blood:

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11761804	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11764225	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11765492	0.84[EUR][1000 genomes]
rs11765726	0.91[AMR][1000 genomes]
rs11769532	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11772508	0.84[EUR][1000 genomes]
rs11971014	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12540539	0.93[AMR][1000 genomes]
rs17132594	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17132624	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17132665	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17132741	0.85[AMR][1000 genomes]
rs17132744	0.91[AMR][1000 genomes]
rs17241904	0.93[AMR][1000 genomes]
rs17300022	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55726557	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55767077	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55776032	0.84[EUR][1000 genomes]
rs55832916	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56208415	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56356906	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56399783	0.84[EUR][1000 genomes]
rs6461600	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6945135	0.80[AMR][1000 genomes]
rs6964740	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6967664	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73033403	0.89[AMR][1000 genomes]
rs73033407	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73033408	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73047368	0.84[EUR][1000 genomes]
rs73047387	0.92[EUR][1000 genomes]
rs73047393	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73049305	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73049327	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73049331	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73049341	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73049362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049380	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73051415	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73051444	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73051469	0.89[AMR][1000 genomes]
rs757788	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803944	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7804264	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7811164	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
3	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
5	chr7:2799200-2827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:2801000-2827600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:2801000-2829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:2801000-2831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:2801000-2831600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:2802600-2826400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:2803400-2833400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:2803600-2826800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:2807800-2827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:2810600-2842600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:2810800-2840800	Weak transcription	Stomach Mucosa	stomach
16	chr7:2812600-2831400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:2813800-2829200	Weak transcription	Esophagus	oesophagus
18	chr7:2814400-2838800	Weak transcription	K562	blood
19	chr7:2815600-2829200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:2815600-2831600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:2815800-2840600	Weak transcription	Fetal Brain Male	brain
22	chr7:2816200-2828000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:2816200-2831600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:2816400-2826400	Weak transcription	Spleen	Spleen
25	chr7:2816400-2831600	Weak transcription	Brain Substantia Nigra	brain
26	chr7:2816600-2826400	Weak transcription	Liver	Liver
27	chr7:2817000-2829400	Weak transcription	Colonic Mucosa	Colon
28	chr7:2817800-2826400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:2818000-2827400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:2818400-2831200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:2819000-2826400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:2819200-2831600	Weak transcription	Hela-S3	cervix
33	chr7:2820400-2826400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:2821600-2827000	Weak transcription	Psoas Muscle	Psoas
35	chr7:2822200-2826400	Weak transcription	NHDF-Ad	bronchial
36	chr7:2822400-2827800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:2822400-2835000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:2822600-2828000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:2822600-2841000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:2822800-2829600	Weak transcription	Fetal Thymus	thymus
41	chr7:2822800-2834800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:2823000-2826400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr7:2823200-2826400	Weak transcription	Brain Germinal Matrix	brain
44	chr7:2823200-2826400	Weak transcription	Pancreas	Pancrea
45	chr7:2823200-2827200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:2823200-2828400	Weak transcription	Primary B cells from cord blood	blood
47	chr7:2823600-2835000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:2824000-2842800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr7:2824400-2826400	Weak transcription	Lung	lung
50	chr7:2824400-2836600	Weak transcription	Small Intestine	intestine

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