Variant report

Variant	rs56361057
Chromosome Location	chr7:127317814-127317815
allele	C/G
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	chr7:127317717-127319333	K562	blood:	n/a	n/a
2	CEBPB	chr7:127317532-127317831	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:127317397-127319999	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127289745..127292674-chr7:127316205..127318087,2	K562	blood:

Variant related genes	Relation type
SND1	TF binding region
ENSG00000240790	Chromatin interaction
ENSG00000197157	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3757772	0.87[EUR][1000 genomes]
rs41281725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55679923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56279409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127293200-127322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:127293200-127326600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
4	chr7:127295000-127318400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:127295000-127322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:127295200-127321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:127295400-127326400	Weak transcription	Thymus	Thymus
8	chr7:127296200-127318200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:127296200-127326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:127299000-127318600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:127299000-127334400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:127300600-127320400	Weak transcription	Placenta	Placenta
13	chr7:127300800-127319800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:127304600-127326600	Weak transcription	Fetal Stomach	stomach
15	chr7:127304800-127319000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:127304800-127319000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:127305200-127326600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:127306400-127318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:127306600-127323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:127307000-127322000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:127307000-127324200	Weak transcription	Fetal Heart	heart
22	chr7:127307000-127324200	Weak transcription	Stomach Mucosa	stomach
23	chr7:127307000-127330200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:127307200-127323200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:127307800-127324400	Weak transcription	Small Intestine	intestine
26	chr7:127308000-127323600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:127308200-127326600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:127308400-127326600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:127308800-127323600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:127308800-127323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:127308800-127333600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:127309000-127318200	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:127309200-127318400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:127309400-127333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:127309600-127339600	Weak transcription	Brain Germinal Matrix	brain
36	chr7:127309800-127319200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:127310200-127318400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:127310600-127326400	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:127311200-127326600	Weak transcription	Hela-S3	cervix
40	chr7:127312000-127323200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:127312200-127318800	Weak transcription	A549	lung
42	chr7:127312200-127319600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:127313000-127318400	Weak transcription	Fetal Intestine Small	intestine
44	chr7:127314000-127319800	Strong transcription	K562	blood
45	chr7:127314200-127318400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:127314200-127323600	Weak transcription	Gastric	stomach
47	chr7:127314400-127318000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:127314400-127318400	Weak transcription	Fetal Lung	lung
49	chr7:127314400-127318400	Weak transcription	Lung	lung
50	chr7:127314400-127318400	Weak transcription	Psoas Muscle	Psoas

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