Variant report

Variant	rs2816644
Chromosome Location	chr14:105691474-105691475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105690256..105694283-chr14:105711655..105716319,5	MCF-7	breast:
2	chr14:105686263..105689184-chr14:105690812..105692738,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185024	Chromatin interaction
ENSG00000184887	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10139839	1.00[CHD][hapmap]
rs11620688	1.00[CHD][hapmap]
rs12100473	1.00[CHD][hapmap]
rs12431709	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers 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	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
8	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
9	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	esv1797182	chr14:105590971-105696174	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	esv1836064	chr14:105590971-105696174	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv902433	chr14:105596054-105719306	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv902440	chr14:105602619-105699630	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription 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	16 gene(s)	inside rSNPs	diseases
15	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
16	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
19	nsv902455	chr14:105633499-105699630	Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv902460	chr14:105646179-105731255	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv902464	chr14:105654606-105717265	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv510651	chr14:105656882-105725155	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv827085	chr14:105688720-105692596	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105668600-105714200	Weak transcription	HUVEC	blood vessel
2	chr14:105669800-105713800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:105671400-105697000	Weak transcription	Small Intestine	intestine
4	chr14:105672200-105694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:105672400-105713200	Weak transcription	Osteobl	bone
6	chr14:105672600-105695600	Weak transcription	HMEC	breast
7	chr14:105673600-105713600	Weak transcription	Stomach Mucosa	stomach
8	chr14:105674000-105696000	Strong transcription	Fetal Stomach	stomach
9	chr14:105674000-105698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:105674200-105695800	Strong transcription	Fetal Intestine Small	intestine
11	chr14:105674800-105694200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:105674800-105695400	Strong transcription	Fetal Brain Female	brain
13	chr14:105674800-105696000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:105675200-105695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:105675400-105693400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr14:105675400-105693800	Strong transcription	Primary T cells from cord blood	blood
17	chr14:105675400-105694200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:105675400-105694400	Strong transcription	Brain Germinal Matrix	brain
19	chr14:105675400-105695800	Strong transcription	Dnd41	blood
20	chr14:105675600-105695400	Strong transcription	Thymus	Thymus
21	chr14:105675600-105695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:105675800-105693200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:105676800-105713800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:105679800-105714000	Weak transcription	NHDF-Ad	bronchial
25	chr14:105680600-105714000	Weak transcription	Psoas Muscle	Psoas
26	chr14:105681400-105693200	Strong transcription	Brain Anterior Caudate	brain
27	chr14:105681400-105714000	Weak transcription	HSMMtube	muscle
28	chr14:105681400-105714200	Weak transcription	HSMM	muscle
29	chr14:105681800-105693200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:105682200-105695800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:105682200-105696000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:105682400-105693400	Weak transcription	Fetal Brain Male	brain
33	chr14:105682400-105694000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:105682600-105696000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:105682800-105694000	Strong transcription	Fetal Intestine Large	intestine
36	chr14:105682800-105694200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:105682800-105695400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:105683000-105694000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:105683000-105694200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:105683000-105695800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:105683400-105693200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:105683400-105693600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:105683400-105694600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:105683400-105694600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr14:105683800-105693400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:105683800-105694400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr14:105683800-105694600	Strong transcription	Placenta	Placenta
48	chr14:105684200-105694600	Strong transcription	Fetal Muscle Leg	muscle
49	chr14:105685600-105693200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:105685600-105707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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