Variant report

Variant	rs16843858
Chromosome Location	chr4:3118693-3118694
allele	C/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	MAFF	chr4:3118557-3118717	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:3118080-3118709	GM12878	blood:	n/a	n/a
3	MAFK	chr4:3118515-3118726	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3112475..3121644-chr4:3122211..3126506,10	MCF-7	breast:
2	chr4:3116172..3119060-chr4:3178746..3180819,2	K562	blood:

Variant related genes	Relation type
HTT	TF binding region
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs363151	0.91[AFR][1000 genomes]
rs41329644	1.00[MEX][hapmap]
rs7679941	1.00[MEX][hapmap]
rs7690736	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 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	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr4:3094400-3123400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:3097200-3143400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:3097200-3162200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:3097400-3163800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:3098000-3162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:3100000-3159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:3101000-3120600	Strong transcription	Fetal Stomach	stomach
9	chr4:3101000-3122600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:3101000-3124200	Strong transcription	Fetal Intestine Large	intestine
11	chr4:3101000-3124400	Strong transcription	Thymus	Thymus
12	chr4:3101600-3124200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:3105400-3123800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr4:3105400-3124800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:3105800-3121400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:3106400-3123400	Strong transcription	Primary T cells from cord blood	blood
17	chr4:3106400-3123800	Strong transcription	Fetal Thymus	thymus
18	chr4:3106400-3145000	Strong transcription	Dnd41	blood
19	chr4:3106800-3125200	Strong transcription	Primary B cells from cord blood	blood
20	chr4:3108400-3119600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:3108400-3123000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:3108600-3125800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr4:3108600-3136600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:3108600-3163000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr4:3108800-3120600	Strong transcription	Fetal Intestine Small	intestine
26	chr4:3108800-3123600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:3108800-3164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:3109000-3123200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:3109000-3123600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:3109000-3124200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:3109200-3119600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr4:3109200-3123200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:3109200-3142600	Strong transcription	GM12878-XiMat	blood
34	chr4:3109400-3124600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr4:3109400-3130400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr4:3109800-3120400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr4:3110400-3123400	Weak transcription	Stomach Mucosa	stomach
38	chr4:3110600-3123400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:3111600-3125400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr4:3112600-3124200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:3112800-3124200	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr4:3113800-3124200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:3114200-3120600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
45	chr4:3114800-3162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:3115000-3123000	Strong transcription	Fetal Muscle Leg	muscle
47	chr4:3115800-3143400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:3115800-3161600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:3115800-3162800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:3116000-3119600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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