Variant report

Variant	rs554546355
Chromosome Location	chr3:134201238-134201239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134027446..134029898-chr3:134199577..134201556,2	MCF-7	breast:
2	chr3:134027625..134034860-chr3:134199305..134206618,11	MCF-7	breast:
3	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
4	chr3:134194842..134202002-chr3:134202428..134206148,8	K562	blood:

Variant related genes	Relation type
ENSG00000129055	Chromatin interaction
ENSG00000114019	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000240006	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv33705	chr3:134201034-134210747	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr3:134183800-134203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:134184000-134203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:134190800-134203600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:134193000-134202800	Weak transcription	Stomach Mucosa	stomach
5	chr3:134193000-134203400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:134193600-134201400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:134193600-134202200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:134193800-134201600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:134193800-134202400	Strong transcription	Fetal Intestine Large	intestine
10	chr3:134194200-134201600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:134194400-134201600	Strong transcription	Primary B cells from cord blood	blood
12	chr3:134194400-134201600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr3:134194400-134201800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:134194400-134202000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:134194400-134202200	Strong transcription	Primary T cells from cord blood	blood
16	chr3:134194600-134201400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:134194600-134201600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:134194600-134202000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr3:134194600-134202200	Strong transcription	Fetal Thymus	thymus
20	chr3:134194600-134202800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr3:134194800-134201400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr3:134194800-134201600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:134194800-134201600	Strong transcription	Fetal Brain Female	brain
24	chr3:134194800-134201600	Strong transcription	Dnd41	blood
25	chr3:134194800-134201800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:134194800-134202000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr3:134195000-134201400	Strong transcription	GM12878-XiMat	blood
28	chr3:134195000-134201800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:134195000-134201800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:134195000-134202000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr3:134195000-134202200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:134195000-134202200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:134195000-134202400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:134195000-134202400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr3:134195200-134201800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr3:134195200-134201800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:134195200-134201800	Strong transcription	Brain Anterior Caudate	brain
38	chr3:134195200-134202600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:134195400-134201800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:134195600-134201600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:134195600-134202200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:134195800-134202000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr3:134196000-134201600	Strong transcription	Placenta	Placenta
44	chr3:134196000-134202000	Strong transcription	Fetal Muscle Leg	muscle
45	chr3:134196600-134202200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr3:134196600-134202400	Strong transcription	K562	blood
47	chr3:134196800-134201400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:134196800-134201600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:134197000-134202000	Weak transcription	Fetal Heart	heart
50	chr3:134197600-134201600	Strong transcription	Fetal Stomach	stomach

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