Variant report

Variant	rs77417538
Chromosome Location	chr6:20209303-20209304
allele	A/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	ATF2	chr6:20208854-20209313	GM12878	blood:	n/a	n/a
2	RCOR1	chr6:20209211-20209442	GM12878	blood:	n/a	n/a
3	BATF	chr6:20208994-20209324	GM12878	blood:	n/a	chr6:20209184-20209195
4	RUNX3	chr6:20208851-20209330	GM12878	blood:	n/a	n/a
5	GATA1	chr6:20208982-20209852	PBDE	blood:	n/a	chr6:20209421-20209430 chr6:20209421-20209428 chr6:20209290-20209300 chr6:20209185-20209194 chr6:20209463-20209473
6	IKZF1	chr6:20208814-20209353	GM12878	blood:	n/a	n/a
7	GATA3	chr6:20209266-20209739	SK-N-SH	brain:	n/a	chr6:20209421-20209430 chr6:20209421-20209428 chr6:20209290-20209300 chr6:20209463-20209473
8	GATA3	chr6:20209175-20209785	SK-N-SH	brain:	n/a	chr6:20209421-20209430 chr6:20209421-20209428 chr6:20209290-20209300 chr6:20209185-20209194 chr6:20209463-20209473
9	NFIC	chr6:20208848-20209377	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:52840503..52842605-chr6:20208710..20211532,2	MCF-7	breast:
2	chr6:20207945..20211455-chr6:26105249..26107952,3	MCF-7	breast:
3	chr6:20208250..20214334-chr6:20400294..20406447,14	K562	blood:
4	chr6:20117949..20119536-chr6:20206647..20209362,2	MCF-7	breast:
5	chr6:20209069..20211986-chr6:20231381..20233005,2	K562	blood:
6	chr6:20208632..20214725-chr6:20400593..20405219,15	K562	blood:
7	chr6:20208057..20215931-chr6:20401288..20405953,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227803	TF binding region
ENSG00000112242	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029729	chr6:20113226-20235122	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538155	chr6:20113226-20235122	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1033904	chr6:20127596-20210374	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1799840	chr6:20196549-20210374	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027355	chr6:20207893-20261048	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20199400-20210000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:20201400-20210800	Weak transcription	Fetal Stomach	stomach
3	chr6:20202600-20211200	Enhancers	Stomach Mucosa	stomach
4	chr6:20203200-20210400	Weak transcription	Fetal Kidney	kidney
5	chr6:20203200-20211200	Weak transcription	Liver	Liver
6	chr6:20203200-20211200	Weak transcription	NHDF-Ad	bronchial
7	chr6:20203600-20210400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:20204400-20210000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:20204400-20210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:20204600-20211000	Weak transcription	HMEC	breast
11	chr6:20204600-20211200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:20204600-20211200	Weak transcription	A549	lung
13	chr6:20204800-20210000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:20204800-20211200	Enhancers	Fetal Heart	heart
15	chr6:20205000-20211200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:20205200-20209600	Weak transcription	NHEK	skin
17	chr6:20205200-20210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:20205400-20210000	Weak transcription	Left Ventricle	heart
19	chr6:20206200-20209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:20206400-20210000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:20206400-20210000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:20206400-20210000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:20206400-20210000	Weak transcription	Gastric	stomach
24	chr6:20206400-20211200	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:20206400-20211200	Weak transcription	Pancreas	Pancrea
26	chr6:20206600-20211200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:20206800-20211200	Weak transcription	Placenta	Placenta
28	chr6:20206800-20211400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:20207000-20210000	Weak transcription	Adipose Nuclei	Adipose
30	chr6:20207000-20210000	Weak transcription	Colonic Mucosa	Colon
31	chr6:20207000-20210000	Weak transcription	Esophagus	oesophagus
32	chr6:20207200-20209400	Enhancers	Colon Smooth Muscle	Colon
33	chr6:20207200-20210000	Weak transcription	Lung	lung
34	chr6:20207200-20211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:20207200-20211200	Weak transcription	Spleen	Spleen
36	chr6:20207400-20211200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:20207600-20210000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:20207600-20210000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:20207600-20210000	Weak transcription	Small Intestine	intestine
40	chr6:20207600-20211000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:20207600-20211000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr6:20207600-20211000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:20207600-20211200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr6:20207600-20211400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr6:20207800-20210000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:20207800-20210000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:20207800-20210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:20207800-20210000	Weak transcription	Fetal Intestine Large	intestine
49	chr6:20207800-20210000	Enhancers	Dnd41	blood
50	chr6:20207800-20210000	Enhancers	Monocytes-CD14+_RO01746	blood

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