Variant report

Variant	rs191238179
Chromosome Location	chr6:29601849-29601850
allele	C/T
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	REST	chr6:29599777-29602043	H1-neurons	neurons:	n/a	chr6:29601089-29601102
2	POLR2A	chr6:29599663-29601899	SK-N-MC	brain:	n/a	n/a
3	MAZ	chr6:29598835-29601887	K562	blood:	n/a	chr6:29600301-29600311 chr6:29601521-29601531
4	JUND	chr6:29600153-29601852	K562	blood:	n/a	n/a
5	SIN3A	chr6:29599830-29601885	H1-hESC	embryonic stem cell:	n/a	chr6:29601213-29601222
6	POLR2A	chr6:29599810-29601940	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
GABBR1	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv970100	chr6:29601673-29604881	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29597600-29602200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:29598200-29602000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:29599000-29602400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:29599800-29602600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr6:29600000-29602000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:29600000-29602000	Active TSS	Brain Angular Gyrus	brain
7	chr6:29600000-29602200	Active TSS	Fetal Brain Female	brain
8	chr6:29600200-29602000	Active TSS	Stomach Smooth Muscle	stomach
9	chr6:29601200-29602000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr6:29601200-29602000	Flanking Active TSS	Fetal Brain Male	brain
11	chr6:29601200-29602200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:29601200-29602400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr6:29601200-29602600	Flanking Active TSS	GM12878-XiMat	blood
14	chr6:29601200-29602800	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr6:29601200-29603000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:29601400-29602000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:29601400-29602200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:29601600-29602000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:29601600-29602000	Active TSS	Primary hematopoietic stem cells	blood
20	chr6:29601600-29602000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:29601600-29602000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr6:29601600-29602000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:29601600-29602000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:29601600-29602200	Enhancers	Primary T cells from cord blood	blood
25	chr6:29601600-29602200	Active TSS	Brain Germinal Matrix	brain
26	chr6:29601600-29602400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:29601600-29602400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:29601600-29602600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr6:29601600-29602600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:29601800-29602000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:29601800-29602000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:29601800-29602000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:29601800-29602000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:29601800-29602000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr6:29601800-29602000	Enhancers	Fetal Heart	heart
36	chr6:29601800-29602200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:29601800-29602200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:29601800-29602200	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:29601800-29602200	Enhancers	Fetal Muscle Leg	muscle
40	chr6:29601800-29602400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:29601800-29602400	Enhancers	Adipose Nuclei	Adipose
42	chr6:29601800-29602400	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:29601800-29602400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:29601800-29602400	Enhancers	K562	blood
45	chr6:29601800-29602600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:29601800-29602600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr6:29601800-29602600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:29601800-29602600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:29601800-29602600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:29601800-29602600	Enhancers	HMEC	breast

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