Variant report

Variant	rs369989286
Chromosome Location	chr4:2846303-2846304
allele	C/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2822347..2826976-chr4:2843259..2846653,5	MCF-7	breast:
2	chr4:2843889..2847586-chr4:2849028..2855037,6	K562	blood:
3	chr4:2846265..2848875-chr4:2873594..2875378,2	K562	blood:
4	chr17:57917834..57920077-chr4:2844330..2846361,2	MCF-7	breast:
5	chr4:2756622..2759640-chr4:2845812..2847874,4	MCF-7	breast:
6	chr4:2818404..2821312-chr4:2845258..2848491,3	MCF-7	breast:
7	chr4:2844829..2846512-chr4:2941018..2943974,2	K562	blood:
8	chr4:2844179..2847079-chr4:2935598..2937938,4	MCF-7	breast:
9	chr4:2824402..2830718-chr4:2842859..2847645,11	MCF-7	breast:
10	chr4:2757710..2760448-chr4:2844046..2847029,2	K562	blood:
11	chr4:2845404..2847784-chr4:2938194..2940916,3	MCF-7	breast:
12	chr4:2795244..2797486-chr4:2845439..2847269,2	MCF-7	breast:
13	chr4:2842030..2853279-chr4:2934021..2940851,24	MCF-7	breast:
14	chr4:2844667..2846499-chr4:2932403..2934582,2	MCF-7	breast:
15	chr4:2844628..2846821-chr4:2925950..2928753,2	MCF-7	breast:
16	chr4:2845175..2847151-chr4:2963481..2966387,2	MCF-7	breast:
17	chr4:2846050..2847976-chr4:2912063..2913866,2	MCF-7	breast:
18	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:
19	chr4:2844741..2846381-chr4:2928922..2931560,2	MCF-7	breast:
20	chr4:2818848..2822289-chr4:2843327..2846796,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249673	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000125388	Chromatin interaction
ENSG00000087266	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	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3414941	chr4:2845004-2846852	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2844400-2846800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr4:2844600-2846400	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr4:2844600-2846600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr4:2844600-2846600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:2844600-2846800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:2844600-2847000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:2844600-2847400	Active TSS	Brain Angular Gyrus	brain
8	chr4:2844600-2847400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr4:2844600-2847400	Active TSS	Ovary	ovary
10	chr4:2844800-2846400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:2844800-2846600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr4:2844800-2846600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:2844800-2846600	Active TSS	Fetal Kidney	kidney
14	chr4:2844800-2846600	Active TSS	Placenta Amnion	Placenta Amnion
15	chr4:2844800-2846600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr4:2844800-2846800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:2844800-2846800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:2844800-2846800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:2844800-2846800	Active TSS	Aorta	Aorta
20	chr4:2844800-2847000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:2844800-2847000	Active TSS	Gastric	stomach
22	chr4:2844800-2847200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:2844800-2847200	Active TSS	Brain Cingulate Gyrus	brain
24	chr4:2844800-2847200	Active TSS	Small Intestine	intestine
25	chr4:2844800-2847200	Active TSS	HSMM	muscle
26	chr4:2844800-2847400	Active TSS	Psoas Muscle	Psoas
27	chr4:2844800-2847400	Active TSS	Right Ventricle	heart
28	chr4:2844800-2847400	Active TSS	NHDF-Ad	bronchial
29	chr4:2844800-2847600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr4:2844800-2847800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:2845000-2846400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:2845000-2846400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr4:2845000-2846400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:2845000-2846400	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr4:2845000-2846400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr4:2845000-2846400	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr4:2845000-2846400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:2845000-2846400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr4:2845000-2846400	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr4:2845000-2846400	Active TSS	Rectal Smooth Muscle	rectum
41	chr4:2845000-2846400	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr4:2845000-2846400	Active TSS	Stomach Mucosa	stomach
43	chr4:2845000-2846400	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr4:2845000-2846400	Active TSS	Osteobl	bone
45	chr4:2845000-2846600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr4:2845000-2846600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:2845000-2846600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:2845000-2846600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:2845000-2846600	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr4:2845000-2846600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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